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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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| Gepubliceerd in: | Taiwan J Ophthalmol |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wolters Kluwer - Medknow
2019
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| Onderwerpen: | |
| Online toegang: | 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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