Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Georgia Vasileiou, Juliane Hoyer, Christian Thomas Thiel, Jan Frederik Schaefer, Maren Zapke, Mandy Krumbiegel, Cornelia S. Kraus, Markus Zweier, Steffen Uebe, Arif Bülent Ekici, Michael Oliver Schneider, Michael Sean Wiesener, Anita M. Rauch, Florian Faschingbauer, André Reis, , Bernt Popp
The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.
Prenatal Diagnosis · Sep 9, 2019Peer-reviewedGenetics