Síndrome de Rubinstein-Taybi - IEFS

Por um escritor misterioso

Last updated 07 abril 2025

El 3 de julio se celebra el Día Internacional del Síndrome de Rubinstein-Taybi, un trastorno que en España afecta a unas 200 personas.

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

Facial features of Rubinstein-Taybi syndrome

Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

Live com Karla Pedra - Comi uma PANC e agora?

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

Rubinstein-Taybi Syndrome 1

PDF) CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

Rubinstein–Taybi syndrome European Journal of Human Genetics

Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X

3 de Julio: DÍA INTERNACIONAL DEL SINDROME DE RUBINSTEIN-TAYBI - Información sin Fronteras

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome

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