Motor-Dominant Peripheral Neuropathy, Polydactyly, Mental Retardation, Kidney Failure, Diabetes Mellitus, and Developmental Delay in the Absence of Retinal Dystrophy: Spectrum of Bardet-Biedl Syndrome (BBS)
2019
Bardet-Biedl syndrome (BBS; OMIM #209900) is a pleiotropic genetic disorder, or ciliopathy, with autosomal recessive inheritance [1].
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