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Article

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

30 Nov 2014

Abstract excerpt

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 identified to cause FHS. METHODS: Here we report the genetic analysis of 5 patients fulfilling the diagnostic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25433523
DOI: 10.1186/s12881-014-0127-0

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Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndromePMID 25433523Read ↗

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Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.Semantic proximity Read ↗

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