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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Suter, Aude-Annick; Santos-Simarro, Fernando; Toerring, Pernille Mathiesen; Abad Perez, Angela; Ramos-Mejia, Rosario; Heath, Karen E; Huckstadt, Victoria; Parrón-Pajares, Manuel; Mensah, Martin Atta; Hülsemann, Wiebke; Holtgrewe, Manuel; Mundlos, Stefan; Kornak, Uwe; Bartsch, Oliver; Ehmke, Nadja.
Afiliação
  • Suter AA; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario La Paz and CIBERER, ISCIII, Madrid, Spain.
  • Toerring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Abad Perez A; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Ramos-Mejia R; Department of Growth and Development, Garrahan Hospital, Buenos Aires, Argentina.
  • Heath KE; Institute of Medical and Molecular Genetics (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario La Paz and CIBERER, ISCIII, Madrid, Spain.
  • Huckstadt V; Department of Genetics, Garrahan Hospital, Buenos Aires, Argentina.
  • Parrón-Pajares M; Department of Radiology and Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.
  • Mensah MA; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Hülsemann W; Berlin Institute of Health (BIH), Berlin, Germany.
  • Holtgrewe M; Handchirurgie Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.
  • Mundlos S; Core Unit Bioinformatics - CUBI, Berlin Institute of Health (BIH), Berlin, Germany.
  • Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Bartsch O; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Ehmke N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Am J Med Genet A ; 182(9): 2068-2076, 2020 09.
Article em En | MEDLINE | ID: mdl-32592542
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Proteínas Repressoras / Hallux Valgus / Predisposição Genética para Doença / Dedos Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Proteínas Repressoras / Hallux Valgus / Predisposição Genética para Doença / Dedos Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article