The defining DNA methylation signature of Floating-Harbor Syndrome

  title={The defining DNA methylation signature of Floating-Harbor Syndrome},
  author={Rebecca L. Hood and Laila Cigana Schenkel and Sarah M. Nikkel and Peter J. Ainsworth and Guillaume Par{\'e} and Kym M. Boycott and Dennis E. Bulman and Bekim Sadikovic},
  journal={Scientific Reports},
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, specific epigenetic consequences of SRCAP mutations remain to be described. Using high… 

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