RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated
Por um escritor misterioso
Last updated 31 janeiro 2025
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Rubinstein–Taybi syndrome - Wikipedia
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
Rubenstein-Taybi syndrome, Psychology Wiki
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
Rubinstein-Taybi Syndrome
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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