Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and impro...

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Vydáno v:BMC Med Genet
Hlavní autoři: Esposito, Gabriella, Testa, Francesco, Zacchia, Miriam, Crispo, Anna Alessia, Di Iorio, Valentina, Capolongo, Giovanna, Rinaldi, Luca, D’Antonio, Marcella, Fioretti, Tiziana, Iadicicco, Pasquale, Rossi, Settimio, Franzè, Annamaria, Marciano, Elio, Capasso, Giovanbattista, Simonelli, Francesca, Salvatore, Francesco
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2017
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5286791/
https://ncbi.nlm.nih.gov/pubmed/28143435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0372-0
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