A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father – A case report
Scand J Clin Lab Invest. 2025 Nov 15:1-5. doi: 10.1080/00365513.2025.2588772. Online ahead of print. ABSTRACT Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous autosomal dominant …