Ciliopathy: Bardet-Biedl Syndrome.
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DOI: 10.1007/978-3-319-95046-4_33
Abstract: Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly,… read more here.
Keywords: bardet biedl; ciliopathy bardet; age; biedl syndrome ... See more keywords