Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome

Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome

Purpose: This case report describes a child with Duane retraction syndrome (DRS) associated with genetically confirmed Type II Rubinstein-Taybi syndrome (RTS). The purpose is to better understand the ocular manifestations of RTS and further explore the possibility that the neurodevelopmental genetic...

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Bibliographic Details
Main Authors: Lilly Tran, Julius T. Oatts, Maanasa Indaram
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Duane retraction syndrome
Rubinstein-Taybi syndrome
Strabismus
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993624002366
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