Rubinstein - Taybi syndrome: phenotypic characteristics

Por um escritor misterioso

Last updated 13 junho 2024

Rubinstein - Taybi syndrome: phenotypic characteristics

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

Rubinstein–Taybi syndrome European Journal of Human Genetics

Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications

Rubinstein-Taybi Syndrome: A case report

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

Recomendado para você