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Article

Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin.

Clinical & experimental ophthalmology - 1 Apr 2020

Goyal Shiwali, Singh Indu R, Vanita Vanita

Abstract excerpt

BACKGROUND: To identify the underlying genetic defect in a fourth-generation autosomal recessive retinitis pigmentosa (arRP) family. Detailed family history and clinical data were collected from nine members, including three affected, from an arRP family. METHODS: Whole-exome sequencing (WES) was performed on DNA sample of an affected individual IV: 2. Variants obtained by WES were annotated using Ion Reporter...

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PMID: 31989739
DOI: 10.1111/ceo.13719

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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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