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Copy number variation and regions of homozygosity analysis in patients with MULLERIAN aplasia
Ekşi, Durkadın Demir; Shen, Yiping; Erman, Münire; Chorich, Lynn P.; Sullivan, Megan E.; Bilekdemir, Meriç; Layman, Lawrence C. (Biomed Central Ltd, 2018)Background: Little is known about the genetic contribution to Mullerian aplasia, better known to patients as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number ...
