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Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
BACKGROUND: Bardet-Biedl syndrome (BBS) is characterized by obesity, cognitive abnormalities, rod-cone dystrophy, skeletal abnormalities, and many other secondary features. CASE PRESENTATION: We describe a 28-year-old man presented with postaxial polydactyly, retinitis pigmentosa, obesity, hypogonad...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Babol University of Medical Sciences
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9659834/ https://www.ncbi.nlm.nih.gov/pubmed/36420325 http://dx.doi.org/10.22088/cjim.13.4.805 |