Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 21 setembro 2024
Dandy walker variant an association with Rubinstein Taybi syndrome
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi Syndrome 1
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Patient Stories Rubinstein-Taybi Syndrome
IJMS, Free Full-Text
The - The Rubinstein-Taybi Syndrome Children's Foundation
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein-Taybi Syndrome 1
Rubinstein Syndrome - an overview
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Genes, Free Full-Text
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