Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma

PURPOSE: To describe the genetic and clinical findings in a large Spanish pedigree with nail-patella syndrome (NPS) and to investigate the expressivity of open angle glaucoma (OAG) in the family members. METHODS: All individuals underwent a complete ophthalmologic examination, including optical cohe...

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Detalles Bibliográficos
Autores principales: Millá, Elena, Hernan, Imma, Gamundi, María José, Martínez-Gimeno, Maria, Carballo, Miguel
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669506/
https://www.ncbi.nlm.nih.gov/pubmed/17515884

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