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Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
Ayers, Katie; van den Bergen, Jocelyn; Robevska, Gorjana; Listyasari, Nurin; Raza, Jamal; Atta, Irum; Riedl, Stefan; Rothacker, Karen; Choong, Catherine; Faradz, Sultana M H; Sinclair, Andrew.
Afiliação
  • Ayers K; Cell Biology, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • van den Bergen J; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
  • Robevska G; Cell Biology, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Listyasari N; Cell Biology, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Raza J; Centre for Biomedical Research Faculty of Medicine Diponegoro University, Division of Human Genetics, Semarang, Indonesia.
  • Atta I; National Institute of Child Health, Karachi, Pakistan.
  • Riedl S; National Institute of Child Health, Karachi, Pakistan.
  • Rothacker K; St. Anna Children's Hospital, Medical University of Vienna, Vienna, Austria.
  • Choong C; Paediatric Department, Medical University of Vienna, Vienna, Austria.
  • Faradz SMH; Division of Pediatric Pulmology, Allergology and Endocrinology, Pediatric Department, Princess Margaret Hospital, Perth, Australia.
  • Sinclair A; Division of Pediatric Pulmology, Allergology and Endocrinology, Pediatric Department, Princess Margaret Hospital, Perth, Australia.
J Med Genet ; 56(7): 434-443, 2019 07.
Article em En | MEDLINE | ID: mdl-31018998
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Proteínas Hedgehog / Estudos de Associação Genética / Transtorno 46,XY do Desenvolvimento Sexual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Proteínas Hedgehog / Estudos de Associação Genética / Transtorno 46,XY do Desenvolvimento Sexual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article