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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Detalles Bibliográficos
Autores principales: Budisteanu, M, Bögershausen, N, Papuc, SM, Moosa, S, Thoenes, M, Riga, D, Arghir, A, Wollnik, B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231312/
https://www.ncbi.nlm.nih.gov/pubmed/30425916
http://dx.doi.org/10.2478/bjmg-2018-0005

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