Bardet-Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. At least 21 different genes have been identified, all involved into primary cilium structure or function. To date, genotype-phenotype correlation is still poor.
Bardet-Biedl Syndrome: A Brief Overview on Clinics and Genetics
Amore, G;Spoto, G;Prato, A;Dicanio, D;Chimenz, R;Ceravolo, I;Salpietro, V;Gitto, E;Ceravolo, G;Pironti, E
2023-01-01
Abstract
Bardet-Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. At least 21 different genes have been identified, all involved into primary cilium structure or function. To date, genotype-phenotype correlation is still poor.File in questo prodotto:
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