Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

Bardet–Biedl syndrome is a rare ciliopathy characterized by retinal dystrophy, obesity, intellectual disability, polydactyly, hypogonadism and renal impairment. Patients are at high risk of cardiovascular disease. Mutations in BBS1 and BBS10 account for more than half of those with molecular confirm...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Forsythe, E, Sparks, K, Hoskins, BE, Bagkeris, E, McGowan, BM, Carroll, PV, Huda, MSB, Mujahid, S, Peters, C, Barrett, T, Mohammed, S, Beales, PL
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2015
Assuntos:
Short Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402025/
https://ncbi.nlm.nih.gov/pubmed/24611735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12373
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