We have located links that may give you full text access.
Genetic evaluation of disorders of sex development: current practice and novel gene discovery.
Current Opinion in Endocrinology, Diabetes, and Obesity 2019 Februrary
PURPOSE OF REVIEW: As the pace of genetic discovery accelerates, genetic sequencing is increasingly applied to rare disease such as DSD (differences or disorders of sex development,) which has led to an increase in the number of novel variant-containing candidate genes identified. In this review, we will discuss several candidate genes which have recently been proposed as causative of DSD, as well as novel work in understanding gene regulation in the mouse gonad that may have implications for the DSD phenotype in humans.
RECENT FINDINGS: We performed a comprehensive search of PubMed through August 2018 to identify relevant peer-reviewed publications from 2017 to 2018 on DSD genetics.
SUMMARY: Seminal work has identified a critical gonadal enhancer of Sox9 in a mouse model. This enhancer is located in a region which had previously been implicated in both XX and XY DSD, though the specific enhancer and its role in Sox9 gene expression had not been defined. Novel candidate genes in XY gonadal dysgenesis (SOX8, ESR2) and XX ovotesticular DSD (NR2F2) have been described.
RECENT FINDINGS: We performed a comprehensive search of PubMed through August 2018 to identify relevant peer-reviewed publications from 2017 to 2018 on DSD genetics.
SUMMARY: Seminal work has identified a critical gonadal enhancer of Sox9 in a mouse model. This enhancer is located in a region which had previously been implicated in both XX and XY DSD, though the specific enhancer and its role in Sox9 gene expression had not been defined. Novel candidate genes in XY gonadal dysgenesis (SOX8, ESR2) and XX ovotesticular DSD (NR2F2) have been described.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app