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…
Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation - ScienceDirect
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Rubinstein-Taybi Syndrome - an overview
PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect
Renal Calculus in Floating–Harbor Syndrome: A Case Report - ScienceDirect
Znhit1 controls meiotic initiation in male germ cells by coordinating with Stra8 to activate meiotic gene expression - ScienceDirect
PDF) Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states
PDF) Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)
PDF) The role of ISWI chromatin remodeling complexes in brain development and neurodevelopmental disorders
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures - ScienceDirect
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