Copyright
©The Author(s) 2023.
World J Clin Cases. Oct 6, 2023; 11(28): 6831-6840
Published online Oct 6, 2023. doi: 10.12998/wjcc.v11.i28.6831
Published online Oct 6, 2023. doi: 10.12998/wjcc.v11.i28.6831
Figure 3 Identification of ALK1 mutations.
A: Mutation of ALK1 in this hereditary hemorrhagic telangiectasia family. 1: Proband (III23); 2: Proband’s son (IV3); 3: Proband’s elder brother (III22). Arrows indicate the mutated nucleotide at position 1121 in exon 8 of ALK1; B: Sequence of exon 8 of ALK1 and the mutation exhibited in this hereditary hemorrhagic telangiectasia family. ALK8E1: Proband (III23); ALK8E2: Proband’s sister (III24); ALK8E3: Proband’s elder brother (III22); ALK8E4: Proband’s nephew (IV4); ALK8E5: Proband’s son (IV3); ALK8E6: Proband’s niece (IV2).
- Citation: Chen YL, Jiang HY, Li DP, Lin J, Chen Y, Xu LL, Gao H. Multi-organ hereditary hemorrhagic telangiectasia: A case report. World J Clin Cases 2023; 11(28): 6831-6840
- URL: https://www.wjgnet.com/2307-8960/full/v11/i28/6831.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v11.i28.6831