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The defining DNA methylation signature of Floating-Harbor Syndrome

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 Activa...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: Hood, Rebecca L., Schenkel, Laila C., Nikkel, Sarah M., Ainsworth, Peter J., Pare, Guillaume, Boycott, Kym M., Bulman, Dennis E., Sadikovic, Bekim
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5146968/
https://ncbi.nlm.nih.gov/pubmed/27934915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep38803
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