The study shows that whole-exome sequencing is a promising approach to detect novel variants-and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752474 | PMC |
| http://dx.doi.org/10.1002/ccr3.3286 | DOI Listing |
Publication Analysis
Top Keywords
whole-exome sequencing
8
male pseudohermaphroditism
4
pseudohermaphroditism case
4
case study
4
study 46xy
4
46xy disorder
4
disorder sexual
4
sexual development
4
development whole-exome
4
sequencing study
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!