Loss-of-Function Thr347Ala Variant in the G Protein Subunit-α11 Causes Familial Hypocalciuric Hypercalcemia 2 (FHH2).
Ida Marie BoisenWei DuAnders JuulHans Bräuner-OsborneAnders A JensenMartin Blomberg JensenPublished in: The Journal of clinical endocrinology and metabolism (2024)
This identification of a novel GNA11 variant causing FHH2 substantiates the important role of Gα11 for CaSR signaling and Ca2+ homeostasis.
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