Učitavanje...

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms....

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Br J Ophthalmol
Glavni autori: Kumaran, Neruban, Moore, Anthony T, Weleber, Richard G, Michaelides, Michel
Format: Artigo
Jezik:Inglês
Izdano: British Journal of Ophthalmology 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5574398/
https://ncbi.nlm.nih.gov/pubmed/28689169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2016-309975
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!