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...

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Bibliographic Details
Main Authors: Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B
Format: Article
Language:English
Published: Sciendo 2018-10-01
Series:Balkan Journal of Medical Genetics
Subjects:
clinical management
floating-harbor syndrome (fhs)
snf2-related crebbp activator protein (srcap) gene
Online Access:https://doi.org/10.2478/bjmg-2018-0005

Internet

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

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