Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation

PURPOSE: To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents. METHODS: The patient and his healthy non-consanguineous parents underwent detailed ophthalmic evaluations including electro-oculography (EOG), spectral-domain...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Doc Ophthalmol
Main Authors: Kubota, Daiki, Gocho, Kiyoko, Akeo, Keiichiro, Kikuchi, Sachiko, Sugahara, Michitaka, Matsumoto, Celso Soiti, Shinoda, Kei, Mizota, Atsushi, Yamaki, Kunihiko, Takahashi, Hiroshi, Kameya, Shuhei
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2016
Fag:
Clinical Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4880638/
https://ncbi.nlm.nih.gov/pubmed/27071392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10633-016-9540-3
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker