Congenital glaucoma as a presenting feature of Rubinstein-Taybi

Por um escritor misterioso

Last updated 20 setembro 2024

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene

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

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Hypoplastic thumb, Radiology Case

The Association of Congenital Glaucoma with the Rubinstein-Taybi Syndrome

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

Approach to cases of congenital glaucoma, developmental

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

Rubinstein-Taybi Syndrome: A case report

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

Recomendado para você