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Article

The Phenotypic Variability Associated with Hepatocyte Nuclear Factor 1B Genetic Defects Poses Challenges in Both Diagnosis and Therapy.

International journal of molecular sciences - 22 Apr 2024

Petrakis Ioannis, Sfakiotaki Maria, Bitsori Maria, Drosataki Eleni, Dermitzaki Kleio, Pleros Christos, Androvitsanea Ariadni, Samonakis Dimitrios, Sertedaki Amalia, Xekouki Paraskevi, Galanakis Emmanouil, Stylianou Kostas

Abstract excerpt

The evolving landscape of clinical genetics is becoming increasingly relevant in the field of nephrology. HNF1B-associated renal disease presents with a diverse array of renal and extrarenal manifestations, prominently featuring cystic kidney disease and diabetes mellitus. For the genetic analyses, whole exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) were performed....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38674137
DOI: 10.3390/ijms25084552
PMCID: PMC11050681

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