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Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene

1 Dec 2021

Abstract excerpt

Background: HNF1B deletion/intragenic mutations are the most commonly identified genetic cause of congenital anomalies of the kidney and urinary tract (CAKUT) suggested by fetal ultrasound findings such as: parenchymal hyperechogenicity, overt cystic changes or gross morphological urinary system (UT) abnormalities. The postnatal evolution of these 17q12 deletions encompassing the HNF1B gene-associated findings...

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PMID: 35070826
DOI: 10.21037/tp-21-386

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