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Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Syndromol
Asıl Yazarlar: Suspitsin, Evgeny N., Imyanitov, Evgeny N.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4906432/
https://ncbi.nlm.nih.gov/pubmed/27385962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000445491
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