Article

Prenatal diagnosis of <i>HNF1B</i> -associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

2019-03-14

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> Large deletions of chromosome 17q12 (17q12DS) or intragenic variants in HNF1B are associated with variable developmental, endocrine and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we describe pre- and postnatal phenotypes of seven individuals with HNF1B aberrations and compare their clinical and genetic data to previous studies....

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Literature Corpus work: 7838efb1-8292-5268-adde-73e195bf356a
DOI: 10.1101/576918

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