Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome

Genome Sequencing and Transcriptome Profiling in Twins Discordant for Mayer-Rokitansky-Küster-Hauser Syndrome

To identify potential genetic causes for Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), we analyzed blood and rudimentary uterine tissue of 5 MRKH discordant monozygotic twin pairs. Assuming that a variant solely identified in the affected twin or affected tissue could cause the phenotype, we ident...

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Bibliographic Details
Main Authors: Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich, Nico Weber, Katharina Rall, Marc Sturm, Oliver Kohlbacher, André Koch, Olaf Riess, Sara Y. Brucker, Julia M. Schulze-Hentrich
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Journal of Clinical Medicine
Subjects:
MRKH syndrome
monozygotic discordant twins
genome sequencing
transcriptome analysis
Müllerian ducts
Online Access:https://www.mdpi.com/2077-0383/11/19/5598

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