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Article

Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.

The Indian journal of medical research - 1 Feb 2018

Chandrasekar Sathya Priya, Namboothiri Sheela, Sen Parveen, Sarangapani Sripriya

Abstract excerpt

BACKGROUND & OBJECTIVES: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by multiple organ defects involving retina, kidney, liver and brain. Disease-causing mutations in BBS genes narrowed down by homozygosity mapping in small consanguineous and non-consanguineous pedigrees were reported in 80 per cent of the study population. This study was aimed to screen...

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Source

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Identifiers

PMID: 29806606
DOI: 10.4103/ijmr.IJMR_1822_15
PMCID: PMC5991121

Genes

BBS10
ARL6
BBS5
BBS1
BBS12
BBS9
MKKS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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