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Article

The defining DNA methylation signature of Floating-Harbor Syndrome

9 Dec 2016

Abstract excerpt

Floating-Harbor syndrome (FHS) is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive language impairment, and unique facial dysmorphology. We previously identified mutations in the chromatin remodeling protein SRCAP (SNF2-related CBP Activator Protein) as the cause of FHS. SRCAP has multiple roles in chromatin and transcriptional regulation; however,...

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PMID: 27934915
DOI: 10.1038/srep38803

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