{"id":"https://openalex.org/W2090548302","doi":"https://doi.org/10.1016/0378-3782(96)01733-1","title":"Three siblings with Harlequin Ichthyosis in an Indian family","display_name":"Three siblings with Harlequin Ichthyosis in an Indian family","publication_year":1996,"publication_date":"1996-07-01","ids":{"openalex":"https://openalex.org/W2090548302","doi":"https://doi.org/10.1016/0378-3782(96)01733-1","mag":"2090548302","pmid":"https://pubmed.ncbi.nlm.nih.gov/8855396"},"language":"en","primary_location":{"id":"doi:10.1016/0378-3782(96)01733-1","doi":"https://doi.org/10.1016/0378-3782(96)01733-1","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0378-3782(96)01733-1","pdf_url":null,"source":{"id":"https://openalex.org/S124424368","display_name":"Early Human Development","issn_l":"0378-3782","issn":["0378-3782","1872-6232"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Early Human Development","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5037147613","display_name":"Asha S. Multani","orcid":"https://orcid.org/0000-0002-6989-8627","observed_orcids":["https://orcid.org/0000-0002-6989-8627"]},"institutions":[{"id":"https://openalex.org/I114173286","display_name":"Gujarat University","ror":"https://ror.org/017f2w007","country_code":"IN","type":"education","lineage":["https://openalex.org/I114173286"]},{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["IN","US"],"is_corresponding":true,"raw_author_name":"Asha S. Multani","raw_affiliation_strings":["Department of Cell Biology, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA","Department of Cell Biology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA","Human Genetics and Reproduction Unit, Department of Zoology, School of Sciences, Gujarat University, Ahmedabad-380009, Gujarat, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell Biology, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA","institution_ids":["https://openalex.org/I1343551460"]},{"raw_affiliation_string":"Department of Cell Biology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA","institution_ids":["https://openalex.org/I1343551460"]},{"raw_affiliation_string":"Human Genetics and Reproduction Unit, Department of Zoology, School of Sciences, Gujarat University, Ahmedabad-380009, Gujarat, India","institution_ids":["https://openalex.org/I114173286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026168744","display_name":"Frenny J. Sheth","orcid":"https://orcid.org/0000-0001-8315-9436","observed_orcids":["https://orcid.org/0000-0001-8315-9436"]},"institutions":[{"id":"https://openalex.org/I114173286","display_name":"Gujarat University","ror":"https://ror.org/017f2w007","country_code":"IN","type":"education","lineage":["https://openalex.org/I114173286"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Frenny J. Sheth","raw_affiliation_strings":["Human Genetics and Reproduction Unit, Department of Zoology, School of Sciences, Gujarat University, Ahmedabad-380009, Gujarat, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics and Reproduction Unit, Department of Zoology, School of Sciences, Gujarat University, Ahmedabad-380009, Gujarat, India","institution_ids":["https://openalex.org/I114173286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100878370","display_name":"Vinod C. Shah","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114173286","display_name":"Gujarat University","ror":"https://ror.org/017f2w007","country_code":"IN","type":"education","lineage":["https://openalex.org/I114173286"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Vinod C. Shah","raw_affiliation_strings":["Human Genetics and Reproduction Unit, Department of Zoology, School of Sciences, Gujarat University, Ahmedabad-380009, Gujarat, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics and Reproduction Unit, Department of Zoology, School of Sciences, Gujarat University, Ahmedabad-380009, Gujarat, India","institution_ids":["https://openalex.org/I114173286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090730712","display_name":"N. J. Chinoy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114173286","display_name":"Gujarat University","ror":"https://ror.org/017f2w007","country_code":"IN","type":"education","lineage":["https://openalex.org/I114173286"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Niloufer J. Chinoy","raw_affiliation_strings":["Human Genetics and Reproduction Unit, Department of Zoology, School of Sciences, Gujarat University, Ahmedabad-380009, Gujarat, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics and Reproduction Unit, Department of Zoology, School of Sciences, Gujarat University, Ahmedabad-380009, Gujarat, India","institution_ids":["https://openalex.org/I114173286"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060815247","display_name":"Sen Pathak","orcid":"https://orcid.org/0000-0002-2458-6048","observed_orcids":["https://orcid.org/0000-0002-2458-6048"]},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sen Pathak","raw_affiliation_strings":["Department of Cell Biology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell Biology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA","institution_ids":["https://openalex.org/I1343551460"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5037147613"],"corresponding_institution_ids":["https://openalex.org/I114173286","https://openalex.org/I1343551460"],"apc_list":{"value":3840,"currency":"USD","value_usd":3840},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.19941706,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"45","issue":"3","first_page":"229","last_page":"233"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.9312000274658203,"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.9312000274658203,"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/T11650","display_name":"Skin and Cellular Biology Research","score":0.06270000338554382,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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/harlequin-ichthyosis","display_name":"harlequin ichthyosis","score":0.9800000190734863},{"id":"https://openalex.org/keywords/congenital-ichthyosis","display_name":"congenital ichthyosis","score":0.746999979019165},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.6589999794960022},{"id":"https://openalex.org/keywords/familial-occurrence","display_name":"familial occurrence","score":0.6240000128746033},{"id":"https://openalex.org/keywords/genetic-inheritance","display_name":"genetic inheritance","score":0.6620000004768372},{"id":"https://openalex.org/keywords/indian-families","display_name":"Indian families","score":0.5080000162124634}],"concepts":[{"id":"https://openalex.org/C2776292323","wikidata":"https://www.wikidata.org/wiki/Q523893","display_name":"Ichthyosis","level":2,"score":0.6897810697555542},{"id":"https://openalex.org/C2910530303","wikidata":"https://www.wikidata.org/wiki/Q523893","display_name":"Congenital ichthyosis","level":3,"score":0.6196321845054626},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.44898301362991333},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3881964385509491},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3763003349304199},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.32390451431274414},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3150259852409363},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.2740752100944519}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007057","descriptor_name":"Ichthyosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007057","descriptor_name":"Ichthyosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/0378-3782(96)01733-1","doi":"https://doi.org/10.1016/0378-3782(96)01733-1","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0378-3782(96)01733-1","pdf_url":null,"source":{"id":"https://openalex.org/S124424368","display_name":"Early Human Development","issn_l":"0378-3782","issn":["0378-3782","1872-6232"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Early Human Development","raw_type":"journal-article"},{"id":"pmid:8855396","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8855396","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Early human development","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309475","display_name":"Northwestern University","ror":"https://ror.org/000e0be47"},{"id":"https://openalex.org/F4320320767","display_name":"University Grants Commission","ror":"https://ror.org/04p800546"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W47942402","https://openalex.org/W230396661","https://openalex.org/W1485201416","https://openalex.org/W1567904192","https://openalex.org/W1995176015","https://openalex.org/W2002214302","https://openalex.org/W2017536808","https://openalex.org/W2019961040","https://openalex.org/W2025509605","https://openalex.org/W2036513940","https://openalex.org/W2047084876","https://openalex.org/W2050975405","https://openalex.org/W2150068771","https://openalex.org/W2163699943","https://openalex.org/W4298856612","https://openalex.org/W6609104102"],"related_works":["https://openalex.org/W1968556387","https://openalex.org/W2050975405","https://openalex.org/W2011785120","https://openalex.org/W2182342897","https://openalex.org/W4300772705","https://openalex.org/W1964526632","https://openalex.org/W2299800546","https://openalex.org/W2614439793","https://openalex.org/W2409480088","https://openalex.org/W2736736574"],"abstract_inverted_index":null,"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}