Coloboma Associated With Rubinstein-Taybi Syndrome

Coloboma Associated With Rubinstein-Taybi Syndrome

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Coloboma - EyeWiki

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

Very Small Stature, Not Skeletal Dysplasia

Rubinstein taybi syndrome

PDF) Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

PDF] Rubinstein-Taybi Syndrome: A Case Report

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

DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs

IJMS, Free Full-Text

PDF) Rubinstein-Taybi syndrome medical guidelines

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