Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2073522367', 'doi': 'https://doi.org/10.1212/01.wnl.0000435300.64776.7e', 'title': 'Teaching Neuro <i>Images</i> : Hypomyelinating leukodystrophy with hypodontia due to <i>POLR3B</i>', 'display_name': 'Teaching Neuro <i>Images</i> : Hypomyelinating leukodystrophy with hypodontia due to <i>POLR3B</i>', 'publication_year': 2013, 'publication_date': '2013-11-04', 'ids': {'openalex': 'https://openalex.org/W2073522367', 'doi': 'https://doi.org/10.1212/01.wnl.0000435300.64776.7e', 'mag': '2073522367', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/24190003', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/3812106'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1212/01.wnl.0000435300.64776.7e', 'pdf_url': 'https://n.neurology.org/content/neurology/81/19/e145.full.pdf', 'source': {'id': 'https://openalex.org/S79704628', 'display_name': 'Neurology', 'issn_l': '0028-3878', 'issn': ['0028-3878', '1526-632X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'bronze', 'oa_url': 'https://n.neurology.org/content/neurology/81/19/e145.full.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5031917279', 'display_name': 'Matthis Synofzik', 'orcid': 'https://orcid.org/0000-0002-2280-7273'}, 'institutions': [{'id': 'https://openalex.org/I4210141865', 'display_name': 'Hertie Institute for Clinical Brain Research', 'ror': 'https://ror.org/04zzwzx41', 'country_code': 'DE', 'type': 'other', 'lineage': ['https://openalex.org/I4210141865', 'https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I2799950917', 'display_name': "Montreal Children's Hospital", 'ror': 'https://ror.org/04wc5jk96', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799950917']}, {'id': 'https://openalex.org/I4210125796', 'display_name': "University Children's Hospital Tübingen", 'ror': 'https://ror.org/03esvmb28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210094118', 'https://openalex.org/I4210125796']}], 'countries': ['CA', 'DE'], 'is_corresponding': False, 'raw_author_name': 'Matthis Synofzik', 'raw_affiliation_strings': ["From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany."], 'affiliations': [{'raw_affiliation_string': "From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany.", 'institution_ids': ['https://openalex.org/I4210141865', 'https://openalex.org/I8087733', 'https://openalex.org/I2799950917', 'https://openalex.org/I4210125796']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5008619086', 'display_name': 'Geneviève Bernard', 'orcid': 'https://orcid.org/0000-0002-9634-2966'}, 'institutions': [{'id': 'https://openalex.org/I4210141865', 'display_name': 'Hertie Institute for Clinical Brain Research', 'ror': 'https://ror.org/04zzwzx41', 'country_code': 'DE', 'type': 'other', 'lineage': ['https://openalex.org/I4210141865', 'https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I2799950917', 'display_name': "Montreal Children's Hospital", 'ror': 'https://ror.org/04wc5jk96', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799950917']}, {'id': 'https://openalex.org/I4210125796', 'display_name': "University Children's Hospital Tübingen", 'ror': 'https://ror.org/03esvmb28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210094118', 'https://openalex.org/I4210125796']}], 'countries': ['CA', 'DE'], 'is_corresponding': False, 'raw_author_name': 'Geneviève Bernard', 'raw_affiliation_strings': ["From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany."], 'affiliations': [{'raw_affiliation_string': "From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany.", 'institution_ids': ['https://openalex.org/I4210141865', 'https://openalex.org/I8087733', 'https://openalex.org/I2799950917', 'https://openalex.org/I4210125796']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5028578670', 'display_name': 'Tobias Lindig', 'orcid': 'https://orcid.org/0000-0002-8573-0656'}, 'institutions': [{'id': 'https://openalex.org/I4210141865', 'display_name': 'Hertie Institute for Clinical Brain Research', 'ror': 'https://ror.org/04zzwzx41', 'country_code': 'DE', 'type': 'other', 'lineage': ['https://openalex.org/I4210141865', 'https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I2799950917', 'display_name': "Montreal Children's Hospital", 'ror': 'https://ror.org/04wc5jk96', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799950917']}, {'id': 'https://openalex.org/I4210125796', 'display_name': "University Children's Hospital Tübingen", 'ror': 'https://ror.org/03esvmb28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210094118', 'https://openalex.org/I4210125796']}], 'countries': ['CA', 'DE'], 'is_corresponding': False, 'raw_author_name': 'Tobias Lindig', 'raw_affiliation_strings': ["From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany."], 'affiliations': [{'raw_affiliation_string': "From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany.", 'institution_ids': ['https://openalex.org/I4210141865', 'https://openalex.org/I8087733', 'https://openalex.org/I2799950917', 'https://openalex.org/I4210125796']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5051449137', 'display_name': 'Janina Gburek‐Augustat', 'orcid': 'https://orcid.org/0000-0003-1827-1434'}, 'institutions': [{'id': 'https://openalex.org/I4210141865', 'display_name': 'Hertie Institute for Clinical Brain Research', 'ror': 'https://ror.org/04zzwzx41', 'country_code': 'DE', 'type': 'other', 'lineage': ['https://openalex.org/I4210141865', 'https://openalex.org/I8087733']}, {'id': 'https://openalex.org/I2799950917', 'display_name': "Montreal Children's Hospital", 'ror': 'https://ror.org/04wc5jk96', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799950917']}, {'id': 'https://openalex.org/I4210125796', 'display_name': "University Children's Hospital Tübingen", 'ror': 'https://ror.org/03esvmb28', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210094118', 'https://openalex.org/I4210125796']}, {'id': 'https://openalex.org/I8087733', 'display_name': 'University of Tübingen', 'ror': 'https://ror.org/03a1kwz48', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I8087733']}], 'countries': ['CA', 'DE'], 'is_corresponding': False, 'raw_author_name': 'Janina Gburek-Augustat', 'raw_affiliation_strings': ["From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany."], 'affiliations': [{'raw_affiliation_string': "From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany.", 'institution_ids': ['https://openalex.org/I4210141865', 'https://openalex.org/I2799950917', 'https://openalex.org/I4210125796', 'https://openalex.org/I8087733']}]}], 'institution_assertions': [], 'countries_distinct_count': 2, 'institutions_distinct_count': 4, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 5, 'citation_normalized_percentile': {'value': 0.474227, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 80, 'max': 81}, 'biblio': {'volume': '81', 'issue': '19', 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T12610', 'display_name': 'RNA regulation and disease', 'score': 0.9998, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T12610', 'display_name': 'RNA regulation and disease', 'score': 0.9998, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10915', 'display_name': 'Trace Elements in Health', 'score': 0.9051, 'subfield': {'id': 'https://openalex.org/subfields/2916', 'display_name': 'Nutrition and Dietetics'}, 'field': {'id': 'https://openalex.org/fields/29', 'display_name': 'Nursing'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/hypodontia', 'display_name': 'Hypodontia', 'score': 0.72697943}], 'concepts': [{'id': 'https://openalex.org/C2779385247', 'wikidata': 'https://www.wikidata.org/wiki/Q1549421', 'display_name': 'Hypodontia', 'level': 2, 'score': 0.72697943}, {'id': 'https://openalex.org/C2776100374', 'wikidata': 'https://www.wikidata.org/wiki/Q1821559', 'display_name': 'Leukodystrophy', 'level': 3, 'score': 0.6260012}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.4944682}, {'id': 'https://openalex.org/C15744967', 'wikidata': 'https://www.wikidata.org/wiki/Q9418', 'display_name': 'Psychology', 'level': 0, 'score': 0.357513}, {'id': 'https://openalex.org/C29694066', 'wikidata': 'https://www.wikidata.org/wiki/Q118301', 'display_name': 'Orthodontics', 'level': 1, 'score': 0.28712267}, {'id': 'https://openalex.org/C142724271', 'wikidata': 'https://www.wikidata.org/wiki/Q7208', 'display_name': 'Pathology', 'level': 1, 'score': 0.15881974}, {'id': 'https://openalex.org/C2779134260', 'wikidata': 'https://www.wikidata.org/wiki/Q12136', 'display_name': 'Disease', 'level': 2, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D000848', 'descriptor_name': 'Anodontia', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D020279', 'descriptor_name': 'Hereditary Central Nervous System Demyelinating Diseases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009055', 'descriptor_name': 'Mouth', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': True}, {'descriptor_ui': 'D012320', 'descriptor_name': 'RNA Polymerase III', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000848', 'descriptor_name': 'Anodontia', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D000848', 'descriptor_name': 'Anodontia', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D000848', 'descriptor_name': 'Anodontia', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020279', 'descriptor_name': 'Hereditary Central Nervous System Demyelinating Diseases', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D020279', 'descriptor_name': 'Hereditary Central Nervous System Demyelinating Diseases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D020279', 'descriptor_name': 'Hereditary Central Nervous System Demyelinating Diseases', 'qualifier_ui': 'Q000150', 'qualifier_name': 'complications', 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008279', 'descriptor_name': 'Magnetic Resonance Imaging', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009055', 'descriptor_name': 'Mouth', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012320', 'descriptor_name': 'RNA Polymerase III', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1212/01.wnl.0000435300.64776.7e', 'pdf_url': 'https://n.neurology.org/content/neurology/81/19/e145.full.pdf', 'source': {'id': 'https://openalex.org/S79704628', 'display_name': 'Neurology', 'issn_l': '0028-3878', 'issn': ['0028-3878', '1526-632X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc3812106', 'pdf_url': 'https://europepmc.org/articles/pmc3812106?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812106', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/24190003', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1212/01.wnl.0000435300.64776.7e', 'pdf_url': 'https://n.neurology.org/content/neurology/81/19/e145.full.pdf', 'source': {'id': 'https://openalex.org/S79704628', 'display_name': 'Neurology', 'issn_l': '0028-3878', 'issn': ['0028-3878', '1526-632X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310315671', 'host_organization_name': 'Lippincott Williams & Wilkins', 'host_organization_lineage': ['https://openalex.org/P4310315671', 'https://openalex.org/P4310318547'], 'host_organization_lineage_names': ['Lippincott Williams & Wilkins', 'Wolters Kluwer'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'score': 0.53, 'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 2, 'referenced_works': ['https://openalex.org/W2007114922', 'https://openalex.org/W2096739788'], 'related_works': ['https://openalex.org/W4389568370', 'https://openalex.org/W3108674512', 'https://openalex.org/W3032375762', 'https://openalex.org/W3031052312', 'https://openalex.org/W2748952813', 'https://openalex.org/W2586801360', 'https://openalex.org/W2080531066', 'https://openalex.org/W2073522367', 'https://openalex.org/W1995515455', 'https://openalex.org/W1506200166'], 'abstract_inverted_index': {'An': [0], '18-year-old': [1], 'German': [2], 'woman': [3], 'presented': [4], 'with': [5], 'progressive': [6], 'cerebellar': [7, 23], 'ataxia': [8], 'since': [9], 'early': [10], 'childhood,': [11], 'delayed': [12], 'cognitive': [13], 'development,': [14], 'and': [15, 25, 34, 37, 57], 'hypogonadotropic': [16, 46], 'hypogonadism.': [17], 'MRI': [18], 'demonstrated': [19], 'diffuse': [20], 'cerebral': [21], 'hypomyelination,': [22], 'atrophy,': [24], 'thin': [26], 'corpus': [27], 'callosum;': [28], 'X-ray': [29], 'revealed': [30, 50], 'persistent': [31], 'milk': [32], 'teeth': [33], 'hypoplastic': [35], 'crowns': [36], 'roots': [38], '(figure),': [39], 'indicative': [40], 'of': [41], '4H': [42], 'syndrome': [43], '(hypomyelination,': [44], 'hypodontia,': [45], 'hypogonadism).': [47], 'POLR3B': [48], 'sequencing(1)': [49], '2': [51], 'compound': [52], 'heterozygous': [53], 'mutations': [54], '(C527R': [55], '[C.1579T>C]': [56], 'the': [58], 'common': [59], 'ancestral': [60], 'V523E': [61], '[C.1568T>A](2)).': [62]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2073522367', 'counts_by_year': [{'year': 2018, 'cited_by_count': 3}, {'year': 2017, 'cited_by_count': 2}], 'updated_date': '2024-12-12T11:36:56.397288', 'created_date': '2016-06-24'}