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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...

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Detalles Bibliográficos
Autores principales: Edwar, Michael, Ragab, Usama, Kamel, Ahmed Atia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2022
Materias:
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