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| http://dx.doi.org/10.1016/S0377-1237(05)80077-2 | DOI Listing |
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Article Synopsis
- A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
- Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
- Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
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