Bardet-Biedl syndrome with choledochal cyst: Rare association with a novel variant
Bardet-Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders. Other manifestations include congenital heart diseases, he...
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Wolters Kluwer Medknow Publications,
2023-01-01T00:00:00Z.
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