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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Forsythe, Elizabeth, Beales, Philip L
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group 2013
विषय:
ऑनलाइन पहुंच: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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