Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Abstract Background Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number of patients, but heterozygous copy number variants (CNVs) have been...

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Main Authors: Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P. Chorich, Megan E. Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M. Alper, Lawrence C. Layman
Format: Article
Language:English
Published: BMC 2018-02-01
Series:Molecular Cytogenetics
Subjects:
Müllerian aplasia
Mayer-Rokitansky-Küster-Hauser syndrome
MRKH
Congenital absence of the uterus and vagina
Copy number variant
CNV
Online Access:http://link.springer.com/article/10.1186/s13039-018-0359-3

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