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A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report

Abstract Background Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases ha...

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Principais autores: Girish Kumar Pati, Ayaskanta Singh, Preetam Nath, Jimmy Narayan, Pradeep Kumar Padhi, Prasanta Kumar Parida, Kaumudee Pattnaik, Chittaranjan Panda, Shivaram Prasad Singh
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2016-11-01
Serier:Journal of Medical Case Reports
Fag:
Alagille syndrome
Bile duct paucity
Butterfly vertebra
Café au lait spots
Posterior embryotoxon
Online adgang:http://link.springer.com/article/10.1186/s13256-016-1126-x
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