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...

Descripción completa

Detalles Bibliográficos
Autores principales: Buchert, Rebecca, Schenk, Elisabeth, Hentrich, Thomas, Weber, Nico, Rall, Katharina, Sturm, Marc, Kohlbacher, Oliver, Koch, André, Riess, Olaf, Brucker, Sara Y., Schulze-Hentrich, Julia M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9573672/
https://www.ncbi.nlm.nih.gov/pubmed/36233463
http://dx.doi.org/10.3390/jcm11195598

Ejemplares similares

Ejemplares similares