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Article

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.

Gene - 15 Feb 2013

Khan Saadullah, Ullah Imran, Irfanullah, Touseef Muhammad, Basit Sulman, Khan Muhammad Nasim, Ahmad Wasim

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder resulting from structural and functional defects in numerous organs. Frequent manifestations reported in the syndrome include obesity, renal dysplasia, cognitive impairment, postaxial polydactyly, pigmentary retinal degeneration and h...

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Source

Identifiers

PMID: 23219996
DOI: 10.1016/j.gene.2012.11.023

Genes

BBS10
ARL6
BBS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23219996-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.PMID 23219996Read ↗

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