A case report of primary hypomagnesemia with secondary hypocalcemia caused by TRPM6 gene variants
A 26-day-old male infant presented with recurrent convulsions from 18 days of life. Laboratory investigations revealed severe hypomagnesemia (0.07 mmol/L) and hypocalcemia (1.65 mmol/L). Whole-exome sequencing was performed and identified compound heterozygous pathogenic variants in the TRPM6 gene,...
محفوظ في:
| المؤلفون الرئيسيون: | , , , |
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| التنسيق: | Artigo |
| اللغة: | Chinês |
| منشور في: |
Hunan Xiangya Medical Periodical Press Co., Ltd.
2026-01-01
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| سلاسل: | 中国当代儿科杂志 |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2507066 |
| الوسوم: |
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