Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect

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Last updated 11 novembro 2024

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…

SRCAP - an overview ScienceDirect Topics

PDF) Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states

The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation - ScienceDirect

Znhit1 controls meiotic initiation in male germ cells by coordinating with Stra8 to activate meiotic gene expression - ScienceDirect

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature - ScienceDirect

Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation - ScienceDirect

Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures - ScienceDirect

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect