Article
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Human molecular genetics - 1 Jun 2016
Heon Elise, Kim Gunhee, Qin Sophie, Garrison Janelle E, Tavares Erika, Vincent Ajoy, Nuangchamnong Nina, Scott C Anthony, Slusarski Diane C, Sheffield Val C
Abstract excerpt
Bardet Biedl syndrome (BBS) is a multisystem genetically heterogeneous ciliopathy that most commonly leads to obesity, photoreceptor degeneration, digit anomalies, genito-urinary abnormalities, as well as cognitive impairment with autism, among other features. Sequencing of a DNA sample from a 17-year-old female affected with BBS did not identify any mutation in the known BBS genes. Whole-genome sequencing...
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