Congenital ichthyosiform erythroderma with a novel variant in <i>ABCA12</i> in a Chinese patient

Name: Work Video:
Duration: 3 min 30 s
Description: Congenital ichthyosiform erythroderma (CIE ) is characterized by fine, whitish scales on a background of erythematous skin over the whole body; it is reportedly caused by mutations in
Zhou Yang; Zhan Qi; Zhe Xu; Wei Li; Lin Ma
{'id': 'https://openalex.org/W3011194281', 'doi': 'https://doi.org/10.1002/ped4.12182', 'title': 'Congenital ichthyosiform erythroderma with a novel variant in <i>ABCA12</i> in a Chinese patient', 'display_name': 'Congenital ichthyosiform erythroderma with a novel variant in <i>ABCA12</i> in a Chinese patient', 'publication_year': 2020, 'publication_date': '2020-03-01', 'ids': {'openalex': 'https://openalex.org/W3011194281', 'doi': 'https://doi.org/10.1002/ped4.12182', 'mag': '3011194281', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/32851342', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/7331307'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/ped4.12182', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ped4.12182', 'source': {'id': 'https://openalex.org/S4210213566', 'display_name': 'Pediatric Investigation', 'issn_l': '2574-2272', 'issn': ['2574-2272', '2096-3726'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'doaj', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ped4.12182', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5032203135', 'display_name': 'Zhou Yang', 'orcid': 'https://orcid.org/0000-0002-2989-3215'}, 'institutions': [{'id': 'https://openalex.org/I4210144404', 'display_name': 'Beijing Children’s Hospital', 'ror': 'https://ror.org/04skmn292', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210144404']}, {'id': 'https://openalex.org/I183519381', 'display_name': 'Capital Medical University', 'ror': 'https://ror.org/013xs5b60', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183519381']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Zhou Yang', 'raw_affiliation_strings': ["Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China"], 'affiliations': [{'raw_affiliation_string': "Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China", 'institution_ids': ['https://openalex.org/I4210144404', 'https://openalex.org/I183519381']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100664084', 'display_name': 'Zhan Qi', 'orcid': 'https://orcid.org/0000-0002-2239-4333'}, 'institutions': [{'id': 'https://openalex.org/I4210144404', 'display_name': 'Beijing Children’s Hospital', 'ror': 'https://ror.org/04skmn292', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210144404']}, {'id': 'https://openalex.org/I183519381', 'display_name': 'Capital Medical University', 'ror': 'https://ror.org/013xs5b60', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183519381']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Zhan Qi', 'raw_affiliation_strings': ["Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China"], 'affiliations': [{'raw_affiliation_string': "Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China", 'institution_ids': ['https://openalex.org/I4210144404', 'https://openalex.org/I183519381']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101459711', 'display_name': 'Zhe Xu', 'orcid': 'https://orcid.org/0000-0001-5157-570X'}, 'institutions': [{'id': 'https://openalex.org/I4210144404', 'display_name': 'Beijing Children’s Hospital', 'ror': 'https://ror.org/04skmn292', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210144404']}, {'id': 'https://openalex.org/I183519381', 'display_name': 'Capital Medical University', 'ror': 'https://ror.org/013xs5b60', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183519381']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Zhe Xu', 'raw_affiliation_strings': ["Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China"], 'affiliations': [{'raw_affiliation_string': "Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China", 'institution_ids': ['https://openalex.org/I4210144404', 'https://openalex.org/I183519381']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100318006', 'display_name': 'Wei Li', 'orcid': 'https://orcid.org/0000-0001-7430-6019'}, 'institutions': [{'id': 'https://openalex.org/I183519381', 'display_name': 'Capital Medical University', 'ror': 'https://ror.org/013xs5b60', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183519381']}, {'id': 'https://openalex.org/I4210144404', 'display_name': 'Beijing Children’s Hospital', 'ror': 'https://ror.org/04skmn292', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210144404']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Wei Li', 'raw_affiliation_strings': ["Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China"], 'affiliations': [{'raw_affiliation_string': "Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China", 'institution_ids': ['https://openalex.org/I183519381', 'https://openalex.org/I4210144404']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5052909306', 'display_name': 'Lin Ma', 'orcid': 'https://orcid.org/0000-0001-7625-9842'}, 'institutions': [{'id': 'https://openalex.org/I4210144404', 'display_name': 'Beijing Children’s Hospital', 'ror': 'https://ror.org/04skmn292', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210144404']}, {'id': 'https://openalex.org/I183519381', 'display_name': 'Capital Medical University', 'ror': 'https://ror.org/013xs5b60', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I183519381']}], 'countries': ['CN'], 'is_corresponding': True, 'raw_author_name': 'Lin Ma', 'raw_affiliation_strings': ["Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China"], 'affiliations': [{'raw_affiliation_string': "Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China", 'institution_ids': ['https://openalex.org/I4210144404', 'https://openalex.org/I183519381']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': ['https://openalex.org/A5052909306'], 'corresponding_institution_ids': ['https://openalex.org/I4210144404', 'https://openalex.org/I183519381'], 'apc_list': {'value': 2099, 'currency': 'EUR', 'value_usd': 2875, 'provenance': 'doaj'}, 'apc_paid': {'value': 2099, 'currency': 'EUR', 'value_usd': 2875, 'provenance': 'doaj'}, 'fwci': 0.557, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 5, 'citation_normalized_percentile': {'value': 0.730737, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 79, 'max': 81}, 'biblio': {'volume': '4', 'issue': '1', 'first_page': '51', 'last_page': '54'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11650', 'display_name': 'Skin and Cellular Biology Research', 'score': 0.9994, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell 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/T11650', 'display_name': 'Skin and Cellular Biology Research', 'score': 0.9994, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell 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/T11346', 'display_name': 'Mast cells and histamine', 'score': 0.9974, 'subfield': {'id': 'https://openalex.org/subfields/2403', 'display_name': 'Immunology'}, 'field': {'id': 'https://openalex.org/fields/24', 'display_name': 'Immunology and Microbiology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10929', 'display_name': 'Wnt/β-catenin signaling in development and cancer', 'score': 0.9933, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/erythroderma', 'display_name': 'Erythroderma', 'score': 0.77082217}, {'id': 'https://openalex.org/keywords/compound-heterozygosity', 'display_name': 'Compound heterozygosity', 'score': 0.6929872}], 'concepts': [{'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.92570394}, {'id': 'https://openalex.org/C2778784858', 'wikidata': 'https://www.wikidata.org/wiki/Q1363741', 'display_name': 'Erythroderma', 'level': 2, 'score': 0.77082217}, {'id': 'https://openalex.org/C12125453', 'wikidata': 'https://www.wikidata.org/wiki/Q5156837', 'display_name': 'Compound heterozygosity', 'level': 4, 'score': 0.6929872}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.4410165}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.42639905}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.36581305}, {'id': 'https://openalex.org/C16005928', 'wikidata': 'https://www.wikidata.org/wiki/Q171171', 'display_name': 'Dermatology', 'level': 1, 'score': 0.29371935}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.21003148}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.19245887}], 'mesh': [], 'locations_count': 4, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/ped4.12182', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ped4.12182', 'source': {'id': 'https://openalex.org/S4210213566', 'display_name': 'Pediatric Investigation', 'issn_l': '2574-2272', 'issn': ['2574-2272', '2096-3726'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://doaj.org/article/8e5a7fa92fc24301a1c5a768066157d6', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306401280', 'display_name': 'DOAJ (DOAJ: Directory of Open Access Journals)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': None, 'host_organization_name': None, 'host_organization_lineage': [], 'host_organization_lineage_names': [], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331307', '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/32851342', '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/10.1002/ped4.12182', 'pdf_url': 'https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ped4.12182', 'source': {'id': 'https://openalex.org/S4210213566', 'display_name': 'Pediatric Investigation', 'issn_l': '2574-2272', 'issn': ['2574-2272', '2096-3726'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [{'funder': 'https://openalex.org/F4320321001', 'funder_display_name': 'National Natural Science Foundation of China', 'award_id': '81673042'}], 'datasets': [], 'versions': [], 'referenced_works_count': 13, 'referenced_works': ['https://openalex.org/W2005065751', 'https://openalex.org/W2051343384', 'https://openalex.org/W2092843954', 'https://openalex.org/W2127331850', 'https://openalex.org/W2148121263', 'https://openalex.org/W2158531928', 'https://openalex.org/W2331557374', 'https://openalex.org/W2511421811', 'https://openalex.org/W2744192335', 'https://openalex.org/W2800668897', 'https://openalex.org/W2807473952', 'https://openalex.org/W2944149474', 'https://openalex.org/W3011194281'], 'related_works': ['https://openalex.org/W4232163425', 'https://openalex.org/W3126480584', 'https://openalex.org/W2614546484', 'https://openalex.org/W2162187627', 'https://openalex.org/W2146849562', 'https://openalex.org/W2144143213', 'https://openalex.org/W2126382616', 'https://openalex.org/W2069150591', 'https://openalex.org/W2028961943', 'https://openalex.org/W1964010079'], 'abstract_inverted_index': {'Congenital': [0], 'ichthyosiform': [1], 'erythroderma': [2], '(CIE': [3], ')': [4], 'is': [5, 22], 'characterized': [6], 'by': [7, 25], 'fine,': [8], 'whitish': [9], 'scales': [10], 'on': [11], 'a': [12], 'background': [13], 'of': [14], 'erythematous': [15], 'skin': [16], 'over': [17], 'the': [18], 'whole': [19], 'body;': [20], 'it': [21], 'reportedly': [23], 'caused': [24], 'mutations': [26], 'in': [27]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3011194281', 'counts_by_year': [{'year': 2023, 'cited_by_count': 2}, {'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 1}, {'year': 2020, 'cited_by_count': 1}], 'updated_date': '2024-12-12T11:07:01.916628', 'created_date': '2020-03-23'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
