The First Korean Case of <i>De Novo</i> Proximal 4p Deletion Syndrome in a Child With Developmental Delay

Name: Work Video:
Duration: 3 min 30 s
Description: Soyoung Park, M.D., Byung Ryul Jeon, M.D., Ph.D., You Kyoung Lee, M.D., Ph.D., Chang-Seok Ki, M.D., Ph.D., and Mi-Ae Jang, M.D., Ph.D.. Ann Lab Med 2020;40:435-7. https://doi.org/10.3343/alm.2020.40.5.435
Soyoung Park; Byung Ryul Jeon; You Kyoung Lee; Chang‐Seok Ki; Mi‐Ae Jang
{'id': 'https://openalex.org/W3017388902', 'doi': 'https://doi.org/10.3343/alm.2020.40.5.435', 'title': 'The First Korean Case of <i>De Novo</i> Proximal 4p Deletion Syndrome in a Child With Developmental Delay', 'display_name': 'The First Korean Case of <i>De Novo</i> Proximal 4p Deletion Syndrome in a Child With Developmental Delay', 'publication_year': 2020, 'publication_date': '2020-04-17', 'ids': {'openalex': 'https://openalex.org/W3017388902', 'doi': 'https://doi.org/10.3343/alm.2020.40.5.435', 'mag': '3017388902', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/32311861', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/7169634'}, 'language': 'id', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.3343/alm.2020.40.5.435', 'pdf_url': 'https://www.annlabmed.org/journal/download_pdf.php?doi=10.3343/alm.2020.40.5.435', 'source': {'id': 'https://openalex.org/S4210169500', 'display_name': 'Annals of Laboratory Medicine', 'issn_l': '2234-3806', 'issn': ['2234-3806', '2234-3814'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319466', 'host_organization_name': 'Seoul National University', 'host_organization_lineage': ['https://openalex.org/P4310319466'], 'host_organization_lineage_names': ['Seoul National University'], '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': 'gold', 'oa_url': 'https://www.annlabmed.org/journal/download_pdf.php?doi=10.3343/alm.2020.40.5.435', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5074324259', 'display_name': 'Soyoung Park', 'orcid': 'https://orcid.org/0000-0001-8656-9473'}, 'institutions': [{'id': 'https://openalex.org/I63562232', 'display_name': 'Bucheon University', 'ror': 'https://ror.org/03w9szr81', 'country_code': 'KR', 'type': 'education', 'lineage': ['https://openalex.org/I63562232']}, {'id': 'https://openalex.org/I24541011', 'display_name': 'Soonchunhyang University', 'ror': 'https://ror.org/03qjsrb10', 'country_code': 'KR', 'type': 'education', 'lineage': ['https://openalex.org/I24541011']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Soyoung Park', 'raw_affiliation_strings': ['Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea', 'institution_ids': ['https://openalex.org/I63562232', 'https://openalex.org/I24541011']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5014070811', 'display_name': 'Byung Ryul Jeon', 'orcid': 'https://orcid.org/0000-0002-3803-1115'}, 'institutions': [{'id': 'https://openalex.org/I24541011', 'display_name': 'Soonchunhyang University', 'ror': 'https://ror.org/03qjsrb10', 'country_code': 'KR', 'type': 'education', 'lineage': ['https://openalex.org/I24541011']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Byung Ryul Jeon', 'raw_affiliation_strings': ['Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea'], 'affiliations': [{'raw_affiliation_string': 'Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea', 'institution_ids': ['https://openalex.org/I24541011']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081040857', 'display_name': 'You Kyoung Lee', 'orcid': 'https://orcid.org/0000-0003-1835-2007'}, 'institutions': [{'id': 'https://openalex.org/I24541011', 'display_name': 'Soonchunhyang University', 'ror': 'https://ror.org/03qjsrb10', 'country_code': 'KR', 'type': 'education', 'lineage': ['https://openalex.org/I24541011']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'You Kyoung Lee', 'raw_affiliation_strings': ['Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea'], 'affiliations': [{'raw_affiliation_string': 'Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea', 'institution_ids': ['https://openalex.org/I24541011']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5083448714', 'display_name': 'Chang‐Seok Ki', 'orcid': 'https://orcid.org/0000-0001-7679-8731'}, 'institutions': [{'id': 'https://openalex.org/I4210095549', 'display_name': 'Genome and Company (South Korea)', 'ror': 'https://ror.org/00pv8f849', 'country_code': 'KR', 'type': 'company', 'lineage': ['https://openalex.org/I4210095549']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Chang-Seok Ki', 'raw_affiliation_strings': ['GC Genome, Yongin, Korea'], 'affiliations': [{'raw_affiliation_string': 'GC Genome, Yongin, Korea', 'institution_ids': ['https://openalex.org/I4210095549']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5024119252', 'display_name': 'Mi‐Ae Jang', 'orcid': 'https://orcid.org/0000-0002-6558-5236'}, 'institutions': [{'id': 'https://openalex.org/I24541011', 'display_name': 'Soonchunhyang University', 'ror': 'https://ror.org/03qjsrb10', 'country_code': 'KR', 'type': 'education', 'lineage': ['https://openalex.org/I24541011']}], 'countries': ['KR'], 'is_corresponding': False, 'raw_author_name': 'Mi-Ae Jang', 'raw_affiliation_strings': ['Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea'], 'affiliations': [{'raw_affiliation_string': 'Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea', 'institution_ids': ['https://openalex.org/I24541011']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.285, 'has_fulltext': False, 'cited_by_count': 4, 'citation_normalized_percentile': {'value': 0.584277, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 77, 'max': 79}, 'biblio': {'volume': '40', 'issue': '5', 'first_page': '435', 'last_page': '437'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11213', 'display_name': 'Genomic variations and chromosomal abnormalities', 'score': 0.9994, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, '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/T11213', 'display_name': 'Genomic variations and chromosomal abnormalities', 'score': 0.9994, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, '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/T11677', 'display_name': 'Congenital heart defects research', 'score': 0.9959, '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/T10978', 'display_name': 'Prenatal Screening and Diagnostics', 'score': 0.9957, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [], 'concepts': [{'id': 'https://openalex.org/C41008148', 'wikidata': 'https://www.wikidata.org/wiki/Q21198', 'display_name': 'Computer science', 'level': 0, 'score': 0.33451474}], 'mesh': [{'descriptor_ui': 'D002658', 'descriptor_name': 'Developmental Disabilities', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': True}, {'descriptor_ui': 'D054877', 'descriptor_name': 'Wolf-Hirschhorn Syndrome', 'qualifier_ui': 'Q000175', 'qualifier_name': 'diagnosis', 'is_major_topic': True}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002872', 'descriptor_name': 'Chromosome Deletion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002894', 'descriptor_name': 'Chromosomes, Human, Pair 4', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002894', 'descriptor_name': 'Chromosomes, Human, Pair 4', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002658', 'descriptor_name': 'Developmental Disabilities', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002658', 'descriptor_name': 'Developmental Disabilities', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007621', 'descriptor_name': 'Karyotyping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D056910', 'descriptor_name': 'Republic of Korea', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D054877', 'descriptor_name': 'Wolf-Hirschhorn Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D054877', 'descriptor_name': 'Wolf-Hirschhorn Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}], 'locations_count': 3, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.3343/alm.2020.40.5.435', 'pdf_url': 'https://www.annlabmed.org/journal/download_pdf.php?doi=10.3343/alm.2020.40.5.435', 'source': {'id': 'https://openalex.org/S4210169500', 'display_name': 'Annals of Laboratory Medicine', 'issn_l': '2234-3806', 'issn': ['2234-3806', '2234-3814'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319466', 'host_organization_name': 'Seoul National University', 'host_organization_lineage': ['https://openalex.org/P4310319466'], 'host_organization_lineage_names': ['Seoul National University'], 'type': 'journal'}, '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/PMC7169634', '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/32311861', '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/10.3343/alm.2020.40.5.435', 'pdf_url': 'https://www.annlabmed.org/journal/download_pdf.php?doi=10.3343/alm.2020.40.5.435', 'source': {'id': 'https://openalex.org/S4210169500', 'display_name': 'Annals of Laboratory Medicine', 'issn_l': '2234-3806', 'issn': ['2234-3806', '2234-3814'], 'is_oa': True, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319466', 'host_organization_name': 'Seoul National University', 'host_organization_lineage': ['https://openalex.org/P4310319466'], 'host_organization_lineage_names': ['Seoul National University'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'display_name': 'Zero hunger', 'score': 0.67, 'id': 'https://metadata.un.org/sdg/2'}], 'grants': [{'funder': 'https://openalex.org/F4320321301', 'funder_display_name': 'Soonchunhyang University', 'award_id': None}], 'datasets': [], 'versions': [], 'referenced_works_count': 8, 'referenced_works': ['https://openalex.org/W1556178984', 'https://openalex.org/W1995959074', 'https://openalex.org/W2029092466', 'https://openalex.org/W2065569210', 'https://openalex.org/W2147538622', 'https://openalex.org/W2149228441', 'https://openalex.org/W2155346139', 'https://openalex.org/W2324164551'], 'related_works': ['https://openalex.org/W4396701345', 'https://openalex.org/W4396696052', 'https://openalex.org/W4391913857', 'https://openalex.org/W4391375266', 'https://openalex.org/W2899084033', 'https://openalex.org/W2748952813', 'https://openalex.org/W2390279801', 'https://openalex.org/W2376932109', 'https://openalex.org/W2358668433', 'https://openalex.org/W2001405890'], 'abstract_inverted_index': {'Soyoung': [0], 'Park,': [1], 'M.D.,': [2, 6, 11, 15, 20], 'Byung': [3], 'Ryul': [4], 'Jeon,': [5], 'Ph.D.,': [7, 12, 16], 'You': [8], 'Kyoung': [9], 'Lee,': [10], 'Chang-Seok': [13], 'Ki,': [14], 'and': [17], 'Mi-Ae': [18], 'Jang,': [19], 'Ph.D..': [21], 'Ann': [22], 'Lab': [23], 'Med': [24], '2020;40:435-7.': [25], 'https://doi.org/10.3343/alm.2020.40.5.435': [26]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3017388902', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 2}], 'updated_date': '2024-12-17T01:19:46.926009', 'created_date': '2020-04-24'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
