Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation
HOMG1 due to TRPM6 mutation is a rare condition. We are reporting 11 cases of TRPM6 mutation due to 9 different variants (7 novel). Persistent severe secondary hypocalcemia is a prominent clinical feature of TRPM6 mutation, which can be life-threatening if not treated promptly.
Authors
- Nabeel Aslam (ORCID: https://orcid.org/0000-0003-2735-0951)
- Syed Saddam Hussain
- Sommayya Aftab (ORCID: https://orcid.org/0000-0002-2397-4698)
- Kashan Arshad (ORCID: https://orcid.org/0009-0005-1442-9769)
- Huma Arshad Cheema (ORCID: https://orcid.org/0000-0002-0463-687X)
- Muhammad Nadeem Anjum
- Anjum Saeed (ORCID: https://orcid.org/0000-0001-9369-8476)
Institutions
- University of Health Sciences Lahore (PK)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2025-08-25
- DOI
- https://doi.org/10.1159/000547303
- Primary Topic
- Magnesium in Health and Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00