Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)

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-ye...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Heon, Elise, Kim, Gunhee, Qin, Sophie, Garrison, Janelle E., Tavares, Erika, Vincent, Ajoy, Nuangchamnong, Nina, Scott, C. Anthony, Slusarski, Diane C., Sheffield, Val C.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5081059/
https://ncbi.nlm.nih.gov/pubmed/27008867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw096
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