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A complex phenotype in a family with a pathogenic SOX3 missense variant.
Jelsig, Anne M; Diness, Birgitte R; Kreiborg, Sven; Main, Katharina M; Larsen, Vibeke A; Hove, Hanne.
Afiliação
  • Jelsig AM; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. Electronic address: anne.marie.jelsig@regionh.dk.
  • Diness BR; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
  • Kreiborg S; Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, University of Copenhagen, Copenhagen N, Denmark.
  • Main KM; Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Faculty of Health Sciences, Copenhagen, Denmark; International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, Denmark.
  • Larsen VA; Department of Radiology, University of Copenhagen, Rigshospitalet, Denmark.
  • Hove H; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
Eur J Med Genet ; 61(3): 168-172, 2018 Mar.
Article em En | MEDLINE | ID: mdl-29175558
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Microftalmia / Mutação de Sentido Incorreto / Deficiência Intelectual Ligada ao Cromossomo X / Fatores de Transcrição SOXB1 / Hipopituitarismo Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Ano de publicação: 2018 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: Microftalmia / Mutação de Sentido Incorreto / Deficiência Intelectual Ligada ao Cromossomo X / Fatores de Transcrição SOXB1 / Hipopituitarismo Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Ano de publicação: 2018 Tipo de documento: Article