A rare case of Bardet–Biedl syndrome

We report here a rare case of Bardet–Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver funct...

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Detaylı Bibliyografya
Yayımlandı:Taiwan J Ophthalmol
Asıl Yazarlar: Shrinkhal, Singh, Anupam, Agrawal, Ajai, Mittal, Sanjeev Kumar, Udenia, Hemlata, Bandu, Ghawghawe Harshad
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer - Medknow 2019
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7442099/
https://ncbi.nlm.nih.gov/pubmed/32874845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/tjo.tjo_62_19
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