Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency

Patients with Albright hereditary osteodystrophy (AHO) have defects in stimulatory G protein signaling due to loss of function mutations in GNAS. The mechanism by which these mutations lead to the AHO phenotype has been difficult to establish due to the inaccessibility of the affected tissues. The o...

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