Bardet-biedl syndrome: A case report from Nepal
The Bardet–Biedl syndrome (BBS) is a rare ciliopathic autosomal-recessive disorder, with multiple organ systems involvement. It is usually seen in family with consanguinous marriage. It is characterized by truncal obesity, polydactyly, retinal dystrophy, mental retardation, renal dysfunction and h...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Manipal College of Medical Sciences, Pokhara
2021-08-01
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Series: | Asian Journal of Medical Sciences |
Subjects: | |
Online Access: | https://www.nepjol.info/index.php/AJMS/article/view/38262 |