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Bardet-Biedl syndrome: multiple fingers with multiple defects!

Bardet-Biedl syndrome (BBS) is a rare congenital ciliopathy characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism and renal dysfunction. A 45-year-old Indian man presented with New York Heart Association class 2 dyspnoea of 3 months duration. H...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Madireddi, Jagadesh, Acharya, Vasuveda, Suryanarayana, Jandhyala, Hande, Handattu Manjunath, Shetty, Ranjan
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4680628/
https://ncbi.nlm.nih.gov/pubmed/26611481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-211776
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