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A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).
Demir, Senol; Alavanda, Ceren; Yesil, Gözde; Aslanger, Ayça Dilruba; Ates, Esra Arslan.
Afiliação
  • Demir S; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.
  • Alavanda C; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.
  • Yesil G; Department of Medical Genetics, School of Medicine, Istanbul University, Istanbul, Turkey.
  • Aslanger AD; Department of Medical Genetics, School of Medicine, Istanbul University, Istanbul, Turkey.
  • Ates EA; Genetic Diseases Diagnostic Center, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.
Mol Syndromol ; 14(2): 175-180, 2023 Apr.
Article em En | MEDLINE | ID: mdl-37064342

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Mol Syndromol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Turquia

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Mol Syndromol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Turquia