Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

BACKGROUND: Floating-Harbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and dysmorphic facial features. Recently dominant mutations almost exclusively located in exon 34 of the Snf2-related CREBBP activator protein gene were...

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Detalles Bibliográficos
Autores principales: Seifert, Wenke, Meinecke, Peter, Krüger, Gabriele, Rossier, Eva, Heinritz, Wolfram, Wüsthof, Achim, Horn, Denise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412025/
https://www.ncbi.nlm.nih.gov/pubmed/25433523
http://dx.doi.org/10.1186/s12881-014-0127-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412025/
https://www.ncbi.nlm.nih.gov/pubmed/25433523
http://dx.doi.org/10.1186/s12881-014-0127-0

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