c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma

PURPOSE: To report the clinical, ophthalmic, extraophthalmic, and genetic characteristics of nail-patella syndrome (NPS) in a Chilean family and to investigate the expressivity of open angle glaucoma (OAG) and ocular hypertension (OHT) in the family members. METHODS: Five family members affected wit...

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Detalles Bibliográficos
Autores principales: Romero, Pablo, Sanhueza, Felipe, Lopez, Pamela, Reyes, Loreto, Herrera, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154131/
https://www.ncbi.nlm.nih.gov/pubmed/21850167

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