ArticleBalkan journal of medical genetics : BJMG2018
The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli's Syndrome.
Article in Balkan journal of medical genetics : BJMG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Heritable Chronic Cholestatic Liver Diseases: A Review.Journal of clinical and translational hepatology · 2024Review
- Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli's syndrome: a case report.Diagnostic pathology · 2024Article
- Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.BMC nephrology · 2020Article
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Authors and funding
5 authors.
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Abstract
We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Caroli's disease (CD). To solve the diagnostic challenge, next generation sequencing (NGS) was performed to distinguish between the disorders possibly present in the patient. The diagnosis of CD became evident after two rare known pathogenic mutations were detected in the poly-ductin 1 (
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