Výsledky vyhledávání - "retinal diseases [(MeSH terms)]"

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

Autor: Kumaran, Neruban, Moore, Anthony, Weleber, Richard, Michaelides, Michel

Publikováno v: The British Journal of Ophthalmology
British Journal of Ophthalmology, vol 101, iss 9

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 mark

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3abb887cd0f5b6566286006b8d18f68b
https://pubmed.ncbi.nlm.nih.gov/31138590

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