PMC3687632_01
Roentgenogram of hands. A roentgenogram showed shortened metacarpals on both the left and right hands (arrow). The arrowhead shows subcutaneous calcifications.
cpe-20-021-g001.jpg
PMC3687632_01_cpe-20-021-g001.jpg
fig_001
A roentgenogram of his hands revealed shortened metacarpals and subcutaneous calcifications (Fig. 1).
Direct sequencing analysis of the intron 2/exon 2 junction in the GNAS gene. Mutated and normal nucleotides (A and G respectively) were present in the patient (arrow).
cpe-20-021-g002.jpg
PMC3687632_01_cpe-20-021-g002.jpg
fig_002
Direct sequencing of the amplified genomic DNA fragments identified a previously unreported substitution of adenine for guanine at the splicing acceptor site in intron 2 (c.210+1G>A) (Fig. 2).