SÍNDROME DE RUBINSTEIN-TAYBI - CANAL INFANTIL

Forgotten Diseases Research Foundation

Rubinstein-Taybi syndrome: A report of two siblings with

Síndrome de Rubinstein Taiby, una enfermedad rara conmemorada el 3 de julio - Internacional

Quando un WES può indirizzare la clinica: un paziente con sindrome

Día Internacional del Síndrome de Rubinstein-Taybi - 3 de julio Asociación Española del Síndrome de Rubinstein-Taybi. (2020). 3 de julio - Día Internacional del Síndrome de Rubinstein-Taybi (SRT). 03/07/2020, de FEDER Sitio

Lucía, la niña del 'síndrome de los pulgares anchos' y la sonrisa contagiosa

PDF) 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

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein-Taybi syndrome: clinical features, genetic basis