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Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families

BACKGROUND: Retinitis Pigmentosa (RP) is a clinically and genetically progressive retinal dystrophy associated with severe visual impairments and sometimes blindness, the most common syndromic form of which is Usher syndrome (USH). This study aimed to further increase understanding of the spectrum o...

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Detalles Bibliográficos
Autores principales: Marwan, Muhammad, Dawood, Muhammad, Ullah, Mukhtar, Shah, Irfan Ullah, Khan, Niamat, Hassan, Muhammad Taimur, Karam, Muhammad, Rawlins, Lettie E., Baple, Emma L, Crosby, Andrew H., Saleha, Shamim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10170854/
https://www.ncbi.nlm.nih.gov/pubmed/37165311
http://dx.doi.org/10.1186/s12886-023-02948-8