Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature

Figure 4

Photograph for exon 4 of ACVR1 gene for patient showing heterozygous missense mutation at the nucleotide 617 (c.617G > A) leading to the substitution of the amino-acid arginine by histidine (p.Arg206His), note that patient will have the two types of ALK2 proteins (G and A bases appear overlapping at arrow heads).