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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Zenteno, Juan Carlos, Buentello-Volante, Beatriz, Quiroz-González, Miguel A., Quiroz-Reyes, Miguel A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2009
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2742641/
https://ncbi.nlm.nih.gov/pubmed/19753314
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky