Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment

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Last updated 27 março 2025

Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment

Rubinstein-Taybi syndrome is an intellectual disability which causes short stature, distinctive facial features, and varying cognitive deficits.

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

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

Psychiatric Profile in Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome with scoliosis – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science hub.

Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

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