Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex

PURPOSE: To report a new familial case of the recently described autosomal recessive syndrome of nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen, which arises from compound heterozygosity for Membrane Frizzled-Related Protein (MFRP) mutations in a sibling pair of Mexican origin. ME...

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Detalles Bibliográficos
Autores principales: Zenteno, Juan Carlos, Buentello-Volante, Beatriz, Quiroz-González, Miguel A., Quiroz-Reyes, Miguel A.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742641/
https://www.ncbi.nlm.nih.gov/pubmed/19753314

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742641/
https://www.ncbi.nlm.nih.gov/pubmed/19753314

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