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Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families

Abstract 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 sp...

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Principais autores: Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. Rawlins, Emma L Baple, Andrew H. Crosby, Shamim Saleha
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2023-05-01
סדרה:BMC Ophthalmology
נושאים:
Retinitis pigmentosa
Usher syndrome
Pakistani
PED6C
MYO7A
RHO
גישה מקוונת:https://doi.org/10.1186/s12886-023-02948-8
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