Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Rubinstein-Taybi Syndrome

Clinical photos of the patients. (a) Case 1: Dysmorphic facial features

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect

Rubinstein-Taybi syndrome - Wikidata

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

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Rubinstein-Taybi Syndrome: A case report
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