Mosaic CREBBP mutation causes overlapping clinical features of
Por um escritor misterioso
Last updated 21 março 2025


Rubinstein–Taybi syndrome: clinical and molecular overview

Truncating SRCAP variants outside the Floating-Harbor syndrome

Genetics and epigenetics in the obesity phenotyping scenario

Clinical relevance of postzygotic mosaicism in Cornelia de Lange

IJMS, Free Full-Text

Distribution of mutations in MAP2K1. Schematics are shown of the

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi

Clinical relevance of postzygotic mosaicism in Cornelia de Lange
The analysis for the characterization of three mosaic variants. (A

American Journal of Medical Genetics Part A: Vol 182, No 11

Research articles European Journal of Human Genetics

Insights into genotype–phenotype correlations from CREBBP point

Next generation sequencing identified two novel mutations in NIPBL

CBP Is Required for Establishing Adaptive Gene Programs in the
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