ea0034oc4.5 | Thyroid and bone | SFEBES2014
Howles Sarah
, Nesbit MAndrew
, Hannan Fadil
, Piret Sian
, Cranston Treena
, Rahman Mushtaqur
, Thakker Rajesh
The calcium-sensing receptor (CaSR) is a guanine-nucleotide-binding protein (G-protein)-coupled receptor that has a central role in calcium homeostasis. Loss-of-function mutations of the CaSR result in familial hypocalciuric hypercalcemia type 1 (FHH1) and loss-of-function coding mutations in the CaSR-associated G-protein subunit Gα11 have been reported to cause FHH2 in only two patients to date. The aim of our study was therefore to characterise additional <em...