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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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2024-12-01
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| Col·lecció: | American Journal of Ophthalmology Case Reports |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S2451993624002366 |
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