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A rare cause of syndromic short stature: 3M syndrome in three families.
Isik, Esra; Arican, Duygu; Atik, Tahir; Ooi, Joo Enn; Darcan, Sukran; Ozen, Samim; Simsek Kiper, Pelin Ozlem; Utine, Eda; Cogulu, Ozgur; Ozkinay, Ferda.
Afiliação
  • Isik E; Faculty of Medicine, Department of Pediatric Genetics, Ege University, Izmir, Turkey.
  • Arican D; Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey.
  • Atik T; Faculty of Medicine, Department of Pediatric Genetics, Ege University, Izmir, Turkey.
  • Ooi JE; University of Manchester, School of Medicine, Manchester, UK.
  • Darcan S; Faculty of Medicine, Department of Pediatric Endocrinology, Ege University, Izmir, Turkey.
  • Ozen S; Faculty of Medicine, Department of Pediatric Endocrinology, Ege University, Izmir, Turkey.
  • Simsek Kiper PO; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
  • Utine E; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
  • Cogulu O; Faculty of Medicine, Department of Pediatric Genetics, Ege University, Izmir, Turkey.
  • Ozkinay F; Faculty of Medicine, Department of Pediatric Genetics, Ege University, Izmir, Turkey.
Am J Med Genet A ; 185(2): 461-468, 2021 02.
Article em En | MEDLINE | ID: mdl-33258289

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coluna Vertebral / Proteínas de Transporte / Proteínas do Citoesqueleto / Proteínas Culina / Nanismo / Hipotonia Muscular Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coluna Vertebral / Proteínas de Transporte / Proteínas do Citoesqueleto / Proteínas Culina / Nanismo / Hipotonia Muscular Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article