Fig. 2
From: Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report
The novel “de novo” pathogenic variant in the GNAS gene identified in the family. Sequencing analysis of exon 13 shows a heterozygous missense pathogenic variant (c. 1123G > T) (arrow) in the proband (A) and his mother (E). The variant was absent in his father (C), sister (D), grandmother (B) and grandfather (F). Pedigree of the family showing the transmission of the GNAS variant (G)