USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families

BACKGROUND: Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 individuals worldwide. The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 20–30 % of RP cases. Mutations in the USH2A gene cause a significan...

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Dades bibliogràfiques
Publicat a:BMC Ophthalmol
Autors principals: Ahmed, Asif Naveed, Tahir, Raheel, Khan, Niamat, Ahmad, Mushtaq, Dawood, Muhammad, Basit, Abdul, Yasin, Muhammad, Nowshid, Maha, Marwan, Muhammad, Sultan, Komal, Saleha, Shamim
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8086330/
https://ncbi.nlm.nih.gov/pubmed/33926394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-021-01957-9
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