Case Report
A Novel T55A Variant of Gsα Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis
Figure 3
(a) Shortened distal phalanges with arrow depicting Bonde’s lines. Insert shows no evidence of shortened fourth metacarpal. (b) Labia minora hyperplasia without clitoromegaly. (c) -null mouse embryonic fibroblasts transfected with cDNA encoding the c.163A>G mutant showed a 64% reduction in isoproterenol-induced cAMP production compared to WT . The difference between the WT and mutant isoproterenol-induced cAMP accumulations is statistically significant ().
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