Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
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Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…
PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature - ScienceDirect
PDF) Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)
PDF) Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states
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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect
PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
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