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Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.
Liao, Lihong; Gan, Hoong-Wei; Hwa, Vivian; Dattani, Mehul; Dauber, Andrew.
Afiliação
  • Liao L; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Gan HW; Section of Genetics and Epigenetics in Health and Disease, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Hwa V; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Dattani M; Section of Genetics and Epigenetics in Health and Disease, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Dauber A; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Horm Res Paediatr ; 88(5): 364-370, 2017.
Article em En | MEDLINE | ID: mdl-28675896
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Coluna Vertebral / Proteínas de Transporte / Irmãos / Nanismo / Transtornos do Crescimento / Hipotonia Muscular / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Coluna Vertebral / Proteínas de Transporte / Irmãos / Nanismo / Transtornos do Crescimento / Hipotonia Muscular / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article