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Article

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

Gene - 25 Apr 2013

Agha Zehra, Iqbal Zafar, Azam Maleeha, Hoefsloot Lies H, van Bokhoven Hans, Qamar Raheel

Abstract excerpt

Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet-Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there are communities where Bardet-Biedl Syndrome is found at a higher frequency due to consanguinity. We report here a...

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Source

Identifiers

PMID: 23403234
DOI: 10.1016/j.gene.2013.01.047

Genes

BBS10
BBS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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