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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Manylion Llyfryddiaeth
Prif Awduron: Saket Kumar, A G Harisankar, Nidhi Singh, Singh Rakesh Kumar, Nilay Mayank
Fformat: Erthygl
Iaith:English
Cyhoeddwyd: Wolters Kluwer Medknow Publications 2023-01-01
Cyfres:Journal of Indian Association of Pediatric Surgeons
Pynciau:
bardet–biedl syndrome
biliary cyst
choledochal cyst
ciliopathy
congenital anomaly
genetic mutation
Mynediad Ar-lein:http://www.jiaps.com/article.asp?issn=0971-9261;year=2023;volume=28;issue=6;spage=520;epage=522;aulast=Kumar

Rhyngrwyd

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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