Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome

PURPOSE: To determine the underlying genetic cause of Duane retraction syndrome (DRS) in a non-consanguineous Chinese Han family. METHODS: Detailed ophthalmic and physical examinations were performed on all members from a pedigree with DRS. All exons and their adjacent splicing junctions of the sal-...

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Detalles Bibliográficos
Autores principales: Yang, Ming-ming, Ho, Mary, Lau, Henry H.W., Tam, Pancy O.S., Young, Alvin L., Pang, Chi Pui, Yip, Wilson W.K., Chen, LiJia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654842/
https://www.ncbi.nlm.nih.gov/pubmed/23687435

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