Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
Por um escritor misterioso
Last updated 22 dezembro 2024
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…
Rubinstein-Taybi Syndrome - an overview
16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems - ScienceDirect
Znhit1 controls meiotic initiation in male germ cells by coordinating with Stra8 to activate meiotic gene expression - ScienceDirect
The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect
Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect
Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation - Reschen - 2012 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
ATPase SRCAP is a new player in cell division, uncovering molecular aspects of Floating-Harbor syndrome
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