Coloboma Associated With Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 06 abril 2025


Coloboma - EyeWiki

Rubinstein-Taybi syndrome due to CREBBP mutations (Concept Id: C4551859)

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

Coloboma

Glaucoma and Findings Simulating Glaucoma in the Rubinstein-Taybi Syndrome

Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)
Rubinstein-Taybi Syndrome 1

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

Genetics and therapy for pediatric eye diseases - eBioMedicine

Ocular and Systemic Findings Associated With Optic Disc Colobomas

Bibliography on Rubinstein‐Taybi syndrome - Hennekam - 1990 - American Journal of Medical Genetics - Wiley Online Library

Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
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