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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402025/
https://www.ncbi.nlm.nih.gov/pubmed/24611735
http://dx.doi.org/10.1111/cge.12373