Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinitis pigmentosa, mental retardation, and kidney abnormalities. At least 19 genes have been shown to be associated with BBS, and therefore, genetic testing is highly complicated....

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Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: Suspitsin, Evgeny N., Sokolenko, Anna P., Lyazina, Lydia V., Preobrazhenskaya, Elena V., Lepenchuk, Alla Y., Imyanitov, Evgeny N.
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2015
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4574611/
https://ncbi.nlm.nih.gov/pubmed/26557828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000371408
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