RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated
Por um escritor misterioso
Descrição
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Cureus, Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
JCDR - Rubinstein-Taybi syndrome, Clinodactyly, Talon cusps
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein–Taybi syndrome European Journal of Human Genetics
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open
de
por adulto (o preço varia de acordo com o tamanho do grupo)