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Bardet–Biedl syndrome

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical m...

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Detalhes bibliográficos
Main Authors: Forsythe, Elizabeth, Beales, Philip L
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3522196/
https://ncbi.nlm.nih.gov/pubmed/22713813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.115
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