Original paper
Prenatal diagnosis of HNF1B ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Abstract
Objective 17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we describe prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compare their clinical and genetic data to those of previous studies. Methods Prenatal sequencing and postnatal...
Paper Details
Title
Prenatal diagnosis of HNF1B ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Published Date
Oct 25, 2019
Journal
Volume
39
Issue
12
Pages
1136 - 1147
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Notes
History