The Rubinstein-Taybi syndrome: a report of two cases.

Por um escritor misterioso

Last updated 08 janeiro 2025

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

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

PDF) Rubinstein-Taybi syndrome: A case report

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

Rubinstein-Taybi Syndrome

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH

Apert's Syndrome (Acrocephalosyndactyly): A Description and a Report on Seven Cases - S.S. Musallam, J.R. Poley, Harris D. Riley, 1975

PDF) Rubinstein-Taybi syndrome medical guidelines

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