Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report
We elaborate on the biochemical and genetic work-up performed and describe potential pitfalls in CYP11B2 sequencing due to its homology to CYP11B1.
Authors
- Mala Mahto (ORCID: https://orcid.org/0000-0003-0445-6972)
- Sushil Kumar (ORCID: https://orcid.org/0000-0003-1819-3712)
- Pradeep Kumar (ORCID: https://orcid.org/0000-0002-0892-5425)
- Lekha Priyadharshini Kamarajan
Institutions
- All India Institute of Medical Sciences Raipur (IN)
- All India Institute of Medical Sciences Bhopal (IN)
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Laboratory Medicine
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1093/labmed/lmae102
- Primary Topic
- Hormonal Regulation and Hypertension
- Type
- article
- Field-Weighted Citation Impact
- 0.00