Clinical characteristics of early retinal disease due to CDHR1 mutation

PURPOSE: To describe the early clinical and electrophysiological features of cone-rod dystrophy due to a mutation of cadherin-related family member 1 (CDHR1). METHODS: Three affected siblings from a consanguineous family were ascertained. The clinical data included retinal examination, Goldmann visu...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Ba-Abbad, Rola, Sergouniotis, Panagiotis I., Plagnol, Vincent, Robson, Anthony G., Michaelides, Michel, Holder, Graham E., Webster, Andrew R.
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2013
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3834600/
https://ncbi.nlm.nih.gov/pubmed/24265541
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky