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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados