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CERKL related autosomal recessive retinitis pigmentosa - A report on four affected members from a single family

This case report describes the phenotypes associated with ceramide kinase like protein (CERKL) retinitis pigmentosa (RP) in a family with four affected members. We performed a cross sectional study of four members from a single family with RP. The retinal features, electrophysiology findings, and ge...

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Principais autores: Praneet Telukunta, Deepika C Parameswarappa, Srikanta Kumar Padhy, Jeyapoorani Balasubramanian, Subhadra Jalali
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer Medknow Publications 2025-07-01
Serier:Indian Journal of Ophthalmology. Case Reports
Fag:
cerkl
retinal features
retinitis pigmentosa
rp26
single family
Online adgang:https://journals.lww.com/10.4103/IJO.IJO_361_24
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