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Article

Detection of a novel mutation in a Tunisian child with polycystic kidney disease.

IUBMB life - 1 Aug 2020

Abdelwahed Mayssa, Hilbert Pascale, Ahmed Asma, Dey Mouna, Kamoun Hassen, Ammar-Keskes Leila, Belguith Neïla

Abstract excerpt

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic disease that has an adverse impact on the patients' health and quality of life. ADPKD is usually known as "adult-type disease," but rare cases have been reported in pediatric patients. We present here a 2-year-old Tunisian girl with renal cyst formation and her mother with adult onset ADPKD. Disease-causing mutation has been...

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Identifiers

PMID: 32472977
DOI: 10.1002/iub.2309

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