Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature

Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature

Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-rela...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B
التنسيق: مقال
اللغة:English
منشور في: Sciendo 2018-10-01
سلاسل:Balkan Journal of Medical Genetics
الموضوعات:
clinical management
floating-harbor syndrome (fhs)
snf2-related crebbp activator protein (srcap) gene
الوصول للمادة أونلاين:https://doi.org/10.2478/bjmg-2018-0005

الانترنت

https://doi.org/10.2478/bjmg-2018-0005

مواد مشابهة