A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
Abstract
:1. Introduction
2. Case Presentation
3. Methods
4. Results
5. Discussion
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Matusik, P.; Gach, A.; Zajdel-Cwynar, O.; Pinkier, I.; Kudela, G.; Gawlik, A. A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development. Int. J. Environ. Res. Public Health 2021, 18, 7186. https://doi.org/10.3390/ijerph18137186
Matusik P, Gach A, Zajdel-Cwynar O, Pinkier I, Kudela G, Gawlik A. A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development. International Journal of Environmental Research and Public Health. 2021; 18(13):7186. https://doi.org/10.3390/ijerph18137186
Chicago/Turabian StyleMatusik, Pawel, Agnieszka Gach, Olimpia Zajdel-Cwynar, Iwona Pinkier, Grzegorz Kudela, and Aneta Gawlik. 2021. "A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development" International Journal of Environmental Research and Public Health 18, no. 13: 7186. https://doi.org/10.3390/ijerph18137186