Bardet-Biedl syndrome with choledochal cyst: Rare association with a novel variant

• Auteurs principaux: Saket Kumar (Auteur), A G Harisankar (Auteur), Nidhi Singh (Auteur), Singh Rakesh Kumar (Auteur), Nilay Mayank (Auteur)
• Format: Livre
• Publié: Wolters Kluwer Medknow Publications, 2023-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...