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Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients

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Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) is the second most common cause of primary amenorrhea and characterized by absence of the uterus and the upper part of the vagina. The etiology of MRKH… Click to show full abstract

Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) is the second most common cause of primary amenorrhea and characterized by absence of the uterus and the upper part of the vagina. The etiology of MRKH is mainly unknown but a contribution of genomic alterations is probable. A molecular disturbance so far neglected in MRKH research is aberrant methylation at imprinted loci. In fact, MRKH has been reported in patients with the imprinting disorder Silver–Russell syndrome.

Keywords: ster hauser; search altered; altered imprinting; imprinting marks; rokitansky ster; mayer rokitansky

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018

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