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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797403/
https://www.ncbi.nlm.nih.gov/pubmed/29434669
http://dx.doi.org/10.1186/s13039-018-0359-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797403/
https://www.ncbi.nlm.nih.gov/pubmed/29434669
http://dx.doi.org/10.1186/s13039-018-0359-3

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