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Ciliopathy: Bardet-Biedl Syndrome
2018Bardet-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, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present.
Tarun Sharma +3 more
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The ciliopathies and their relationship with ophthalmology
Archivos de la Sociedad Española de Oftalmología (English Edition), 2013Pinazo-Durán, E.D. Silva
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Theme series: Cilia and ciliopathies
Biology of the Cell, 2019Wei Li, Guangshuo Ou
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Diagnosis and management of ciliopathies
Paediatric Respiratory Reviews, 2011openaire +2 more sources