Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report

Research output: Contribution to journalJournal article

Original languageEnglish
JournalHuman Reproduction
Volume34
Issue number9
Pages (from-to)1838-1846
Number of pages9
ISSN0268-1161
DOIs
Publication statusPublished - Sep 2019

    Fingerprint

Bibliographical note

© The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Keywords

  • Mayer–Rokitansky–Küster–Hauser syndrome/Müllerian aplasia/renal agenesis/CAKUT/GREB1L/genetics/whole exome sequencing/penetrance/genomic imprinting

Cite this