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Variable phenotype and genotype of pediatric patients with HNF1B nephropathy.

Clinical nephrology - 1 Aug 2024

Gülhan Bora, Ekici Ozan, Dursun İsmail, Göknar Nilüfer, Yüksel Selçuk, Alaygut Demet, Özçakar Zeynep Birsin, Nalçacıoğlu Hülya, Demircioğlu Kılıç Beltinge, Söylemezoğlu Oğuz, Duzova Ali, Topaloglu Rezan, Ozaltin Fatih

Abstract excerpt

AIMS: Hepatocyte nuclear factor 1β (HNF1B) mutations are the most common monogenic cause of congenital anomalies of the kidney and urinary tract (CAKUT). We aimed to investigate clinical and genetic characteristics of patients with HNF1B nephropathy to expand its phenotypic and genetic spectrum. MATERIALS AND METHODS: This retrospective cohort study included 16 unrelated pediatric patients (6 females, 10 males)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

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Share to Kidney Diseases, Cystic

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Identifiers

PMID: 38699986
DOI: 10.5414/CN111310

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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