Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?
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DOI: 10.1016/j.ejmg.2019.103812
Abstract: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified… read more here.
Keywords: pax8; 2q12 1q14; hauser syndrome; mayer rokitansky ... See more keywords