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Article

A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India.

BMC ophthalmology - 11 May 2023

Goyal Shiwali, Singh Kabir, Uppal Aashna, Vanita Vanita

Abstract excerpt

OBJECTIVE: This study aimed at identifying the underlying genetic defect in a consanguineous autosomal recessive retinitis pigmentosa (arRP) (RP-1175) family having RP with early macular degeneration, cataract, and myopia. METHODS: Whole-exome sequencing (WES) was performed on the DNA of the proband, and variants observed were validated in the rest of the affected and unaffected family members by Sanger...

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Identifiers

PMID: 37170250
DOI: 10.1186/s12886-023-02936-y
PMCID: PMC10173570

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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