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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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Lilly Tran, Julius T. Oatts, Maanasa Indaram
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2024-12-01
Saila:American Journal of Ophthalmology Case Reports
Gaiak:
Sarrera elektronikoa:http://www.sciencedirect.com/science/article/pii/S2451993624002366
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