Three Siblings With Familial Isolated Hypoparathyroidism: A Diagnostic Journey From CASR to Novel GCM2 Variant

We report a patient who initially presented at 4 days old with hypocalcemia, hypoparathyroidism, and elevated phosphorous level. Treatment was initiated with calcitriol, calcium carbonate (CaCO ), vitamin D, and low phosphorous formula. Family history was positive for an activating calcium sensing r...

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Veröffentlicht in:	JCEM case reports 2024-11, Vol.2 (11), p.luae185
Hauptverfasser:	Thambundit, Apisadaporn, Martinez-Agosto, Julian A, Kianmahd Shamshoni, Jessica, Winer, Karen K, Mittelman, Steven D
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report
Online-Zugang:	Volltext
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