English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

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 recent report of partial  SHOX  duplications in five patients with MA has motivated us to further evaluate their role in the disorder. Therefore we have studied  SHOX  copy number variations (CNVs) in a cohort of 101 Finnish patients with MA and in 115 healthy controls.    Methods  We used multiplex ligation-dependent probe amplification (MLPA) to study  SHOX  CNVs.    Results  All patients showed normal amplification of  SHOX . Several aberrations, duplications and deletions, were found downstream of the gene in five patients and seven controls, but these were all copy number polymorphisms.    Conclusions  Our study in an extensive cohort of patients with MA does not support a role for  SHOX  CNVs in the aetiology of the disorder. Further studies in the field are important for both patients looking for answers as well as for the scientific community for better understanding the regulation of the female reproductive duct development.

Evaluation of SHOX copy number variations in patients with Müllerian aplasia