Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Por um escritor misterioso
Descrição
Rubinstein-Taybi syndrome is an intellectual disability which causes short stature, distinctive facial features, and varying cognitive deficits.
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Forgotten Diseases Research Foundation
A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
Rubinstein-Taybi syndrome: MedlinePlus Genetics
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