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Article

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Molecular vision - 1 Jan 2017

Ullah Asmat, Umair Muhammad, Yousaf Maryam, Khan Sher Alam, Nazim-Ud-Din Muhammad, Shah Khadim, Ahmad Farooq, Azeem Zahid, Ali Ghazanfar, Alhaddad Bader, Rafique Afzal, Jan Abid, Haack Tobias B, Strom Tim M, Meitinger Thomas, Ghous Tahseen, Ahmad Wasim

Abstract excerpt

PURPOSE: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. METHODS: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. RESULTS: Sanger sequencing revealed two novel...

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Source

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Identifiers

PMID: 28761321
PMCID: PMC5524433

Genes

BBS10
BBS7
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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