26 June 2022: Articles
Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation
Challenging differential diagnosis, Rare disease, Congenital defects / diseases
Pongsakorn Choochuen A , Wison Laochareonsuk C , Pattama Tanaanantarak C , Kanet Kanjanapradit B , Surasak Sangkhathat A*DOI: 10.12659/AJCR.935921
Am J Case Rep 2022; 23:e935921
Figure 5. Showing the schematic picture of Antxr2, with protein domains and positions of the previously reported mutations in patients with JHF/IHF and their families. Pairwise alignment between wild-type and mutated protein sequence of our patient was performed using BlastP online software.