Cargando…
Evaluation of SHOX copy number variations in patients with Müllerian aplasia
BACKGROUND: Müllerian aplasia (MA) characterized by congenital loss of functional uterus and vagina is one of the most difficult disorders of female reproductive health. Despite of growing interest in this research field, the cause of the disorder for the majority of patients is still unknown. A rec...
Autores principales: | Sandbacka, Maria, Halttunen, Mervi, Jokimaa, Varpu, Aittomäki, Kristiina, Laivuori, Hannele |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159099/ https://www.ncbi.nlm.nih.gov/pubmed/21806840 http://dx.doi.org/10.1186/1750-1172-6-53 |
Ejemplares similares
-
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
por: Sandbacka, Maria, et al.
Publicado: (2013) -
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
por: Demir Eksi, Durkadin, et al.
Publicado: (2018) -
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis
por: Fanelli, Antonella, et al.
Publicado: (2021) -
Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies
por: Zhu, Ying, et al.
Publicado: (2021) -
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
por: Babu, Deepak, et al.
Publicado: (2020)