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Article

Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.

Science China. Life sciences - 1 Jul 2017

Qi Zhan, Shen Ying, Fu Qian, Li Wei, Yang Wei, Xu Wenshan, Chu Ping, Zhang Yaxin, Wang Hui

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome...

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Source

Identifiers

PMID: 28624958
DOI: 10.1007/s11427-017-9085-7

Genes

NPHP1
BBS9
BBS1
MKKS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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