Published January 1, 2018
| Version v1
Journal article
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Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
Creators
- 1. Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey
- 2. Quaid I Azam Univ, Fac Biol Sci, Dept Anim Sci, Human Genet Program, Islamabad, Pakistan
- 3. Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile
Description
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.
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