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

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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Bibliographic Details
Main Authors: Saket Kumar, A G Harisankar, Nidhi Singh, Singh Rakesh Kumar, Nilay Mayank
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Journal of Indian Association of Pediatric Surgeons
Subjects:
bardet–biedl syndrome
biliary cyst
choledochal cyst
ciliopathy
congenital anomaly
genetic mutation
Online Access:http://www.jiaps.com/article.asp?issn=0971-9261;year=2023;volume=28;issue=6;spage=520;epage=522;aulast=Kumar

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http://www.jiaps.com/article.asp?issn=0971-9261;year=2023;volume=28;issue=6;spage=520;epage=522;aulast=Kumar

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