{"id":"https://openalex.org/W1994925426","doi":"https://doi.org/10.1111/j.1399-0004.2010.01513.x","title":"Two families confirm Sch\u00f6pf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum","display_name":"Two families confirm Sch\u00f6pf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum","publication_year":2010,"publication_date":"2010-12-09","ids":{"openalex":"https://openalex.org/W1994925426","doi":"https://doi.org/10.1111/j.1399-0004.2010.01513.x","mag":"1994925426","pmid":"https://pubmed.ncbi.nlm.nih.gov/21143469"},"language":"en","primary_location":{"id":"doi:10.1111/j.1399-0004.2010.01513.x","doi":"https://doi.org/10.1111/j.1399-0004.2010.01513.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1399-0004.2010.01513.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5038724562","display_name":"Marco Castori","orcid":"https://orcid.org/0000-0002-6069-0993","observed_orcids":["https://orcid.org/0000-0002-6069-0993"]},"institutions":[{"id":"https://openalex.org/I4210095143","display_name":"Azienda Ospedaliera San Camillo-Forlanini","ror":"https://ror.org/00j707644","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210095143"]},{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"M Castori","raw_affiliation_strings":["Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy","These authors equally contributed to this work"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210095143","https://openalex.org/I861853513"]},{"raw_affiliation_string":"These authors equally contributed to this work","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067143617","display_name":"Daniele Castiglia","orcid":"https://orcid.org/0000-0003-3501-6742","observed_orcids":["https://orcid.org/0000-0003-3501-6742"]},"institutions":[{"id":"https://openalex.org/I4210116004","display_name":"Istituto Dermopatico dell'Immacolata","ror":"https://ror.org/02b5mfy68","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210116004","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"D Castiglia","raw_affiliation_strings":["Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy","These authors equally contributed to this work"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I4210116004","https://openalex.org/I4210153126"]},{"raw_affiliation_string":"These authors equally contributed to this work","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037394247","display_name":"Francesco Brancati","orcid":"https://orcid.org/0000-0003-3624-2354","observed_orcids":["https://orcid.org/0000-0003-3624-2354"]},"institutions":[{"id":"https://openalex.org/I39387349","display_name":"University of Chieti-Pescara","ror":"https://ror.org/00qjgza05","country_code":"IT","type":"education","lineage":["https://openalex.org/I39387349"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"F Brancati","raw_affiliation_strings":["Department of Biomedical Sciences, CeSI, G. d\u2019Annunzio University Foundation, Chieti, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Sciences, CeSI, G. d\u2019Annunzio University Foundation, Chieti, Italy","institution_ids":["https://openalex.org/I39387349"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091745429","display_name":"Mario H. Foglio","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2738703131","display_name":"Commissariat \u00e0 l'\u00c9nergie Atomique et aux \u00c9nergies Alternatives","ror":"https://ror.org/00jjx8s55","country_code":"FR","type":"government","lineage":["https://openalex.org/I2738703131"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M Foglio","raw_affiliation_strings":["CEA, Institut de Ge\u0301nomique, Centre National de Genotypage, Evry, France","CEA, Institut de G\u00e9nomique, Centre National de Genotypage, Evry, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CEA, Institut de Ge\u0301nomique, Centre National de Genotypage, Evry, France","institution_ids":["https://openalex.org/I2738703131"]},{"raw_affiliation_string":"CEA, Institut de G\u00e9nomique, Centre National de Genotypage, Evry, France","institution_ids":["https://openalex.org/I2738703131"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091771874","display_name":"Simon Charles Heath","orcid":"https://orcid.org/0000-0002-9550-0897","observed_orcids":["https://orcid.org/0000-0002-9550-0897"]},"institutions":[{"id":"https://openalex.org/I2738703131","display_name":"Commissariat \u00e0 l'\u00c9nergie Atomique et aux \u00c9nergies Alternatives","ror":"https://ror.org/00jjx8s55","country_code":"FR","type":"government","lineage":["https://openalex.org/I2738703131"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S Heath","raw_affiliation_strings":["CEA, Institut de Ge\u0301nomique, Centre National de Genotypage, Evry, France","CEA, Institut de G\u00e9nomique, Centre National de Genotypage, Evry, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CEA, Institut de Ge\u0301nomique, Centre National de Genotypage, Evry, France","institution_ids":["https://openalex.org/I2738703131"]},{"raw_affiliation_string":"CEA, Institut de G\u00e9nomique, Centre National de Genotypage, Evry, France","institution_ids":["https://openalex.org/I2738703131"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016210169","display_name":"Giovanna Floriddia","orcid":"https://orcid.org/0000-0003-0804-8730","observed_orcids":["https://orcid.org/0000-0003-0804-8730"]},"institutions":[{"id":"https://openalex.org/I4210116004","display_name":"Istituto Dermopatico dell'Immacolata","ror":"https://ror.org/02b5mfy68","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210116004","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G Floriddia","raw_affiliation_strings":["Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I4210116004","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014163155","display_name":"Stefania Madonna","orcid":"https://orcid.org/0000-0003-0585-6783","observed_orcids":["https://orcid.org/0000-0003-0585-6783"]},"institutions":[{"id":"https://openalex.org/I4210116004","display_name":"Istituto Dermopatico dell'Immacolata","ror":"https://ror.org/02b5mfy68","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210116004","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S Madonna","raw_affiliation_strings":["Laboratory of Immunology, IDI-IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Immunology, IDI-IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I4210116004","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055667434","display_name":"Judith Fischer","orcid":"https://orcid.org/0000-0002-8580-8118","observed_orcids":["https://orcid.org/0000-0002-8580-8118"]},"institutions":[{"id":"https://openalex.org/I2738703131","display_name":"Commissariat \u00e0 l'\u00c9nergie Atomique et aux \u00c9nergies Alternatives","ror":"https://ror.org/00jjx8s55","country_code":"FR","type":"government","lineage":["https://openalex.org/I2738703131"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J Fischer","raw_affiliation_strings":["CEA, Institut de Ge\u0301nomique, Centre National de Genotypage, Evry, France","CEA, Institut de G\u00e9nomique, Centre National de Genotypage, Evry, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CEA, Institut de Ge\u0301nomique, Centre National de Genotypage, Evry, France","institution_ids":["https://openalex.org/I2738703131"]},{"raw_affiliation_string":"CEA, Institut de G\u00e9nomique, Centre National de Genotypage, Evry, France","institution_ids":["https://openalex.org/I2738703131"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009892820","display_name":"Giovanna Zambruno","orcid":"https://orcid.org/0000-0002-1295-056X","observed_orcids":["https://orcid.org/0000-0002-1295-056X"]},"institutions":[{"id":"https://openalex.org/I4210116004","display_name":"Istituto Dermopatico dell'Immacolata","ror":"https://ror.org/02b5mfy68","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210116004","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G Zambruno","raw_affiliation_strings":["Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I4210116004","https://openalex.org/I4210153126"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5038724562"],"corresponding_institution_ids":["https://openalex.org/I4210095143","https://openalex.org/I861853513"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":2.2083,"has_fulltext":false,"cited_by_count":23,"citation_normalized_percentile":{"value":0.85828828,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"79","issue":"1","first_page":"92","last_page":"95"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.46799999475479126,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.46799999475479126,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.12600000202655792,"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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.08500000089406967,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/wnt10a","display_name":"WNT10A","score":0.9800000190734863},{"id":"https://openalex.org/keywords/phenotypic-spectrum","display_name":"phenotypic spectrum","score":0.7360000014305115},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.4300000071525574},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.4059999883174896}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4321652054786682},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43198662996292114}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004476","descriptor_name":"Ectodermal Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004476","descriptor_name":"Ectodermal Dysplasia","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"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":"D007645","descriptor_name":"Keratoderma, Palmoplantar","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007645","descriptor_name":"Keratoderma, Palmoplantar","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051153","descriptor_name":"Wnt Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1111/j.1399-0004.2010.01513.x","doi":"https://doi.org/10.1111/j.1399-0004.2010.01513.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1399-0004.2010.01513.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:21143469","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21143469","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":"Clinical genetics","raw_type":"Letter"},{"id":"pmh:oai:ricerca.univaq.it:11697/122748","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11697/122748","pdf_url":null,"source":{"id":"https://openalex.org/S7407055225","display_name":"Archivio Istituzionale della Ricerca - Universit\u00e0 degli Studi dell Aquila","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.46810001134872437}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1977244773","https://openalex.org/W1986696976","https://openalex.org/W2004558834","https://openalex.org/W2029516915","https://openalex.org/W2033458608","https://openalex.org/W2053785600","https://openalex.org/W2057843098","https://openalex.org/W2067979488","https://openalex.org/W2090818163","https://openalex.org/W2100378292","https://openalex.org/W2125426791","https://openalex.org/W2167911911","https://openalex.org/W2395400422","https://openalex.org/W2468790580","https://openalex.org/W2992908400","https://openalex.org/W6720457051"],"related_works":["https://openalex.org/W2783175468","https://openalex.org/W2894102605","https://openalex.org/W2624370761","https://openalex.org/W2783348465","https://openalex.org/W7066299923","https://openalex.org/W1533124533","https://openalex.org/W2045220388","https://openalex.org/W2048484377","https://openalex.org/W2167911911","https://openalex.org/W2780064558"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}