First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

Case report: a Chinese girl like atypical Rubinstein–Taybi

PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome

Hyperinsulinism in an individual with an EP300 variant of

PDF) First case report of inherited Rubinstein-Taybi syndrome

Maternally inherited autosomal dominant intellectual disability

Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion

PDF) First case report of inherited Rubinstein-Taybi syndrome

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with

Case report: a Chinese girl like atypical Rubinstein–Taybi

POGZ truncating alleles cause syndromic intellectual disability