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Article

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

Journal of medical genetics - 1 Mar 2018

Yıldız Bölükbaşı Esra, Mumtaz Sara, Afzal Muhammad, Woehlbier Ute, Malik Sajid, Tolun Aslıhan

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS:...

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Source

Identifiers

PMID: 29127258
DOI: 10.1136/jmedgenet-2017-104758

Genes

CEP19
GLI1
MKKS
TMEM67

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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