Clinical and genetic aspects of Bardet–Biedl syndrome in adults in Norway
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DOI: 10.1186/s13023-025-03641-3
Abstract: Bardet–Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, and metabolic characteristics relevant to adults… read more here.
Keywords: aspects bardet; genetic aspects; biedl syndrome; clinical genetic ... See more keywords