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

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 describe...

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Bibliografiske detaljer
Udgivet i:Mol Cytogenet
Main Authors: Demir Eksi, Durkadin, Shen, Yiping, Erman, Munire, Chorich, Lynn P., Sullivan, Megan E., Bilekdemir, Meric, Yılmaz, Elanur, Luleci, Guven, Kim, Hyung-Goo, Alper, Ozgul M., Layman, Lawrence C.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5797403/
https://ncbi.nlm.nih.gov/pubmed/29434669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0359-3
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