Copyright
©The Author(s) 2022.
World J Clin Cases. Jul 16, 2022; 10(20): 7068-7075
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.7068
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.7068
Figure 1 Clinical features of the proband.
A: Unilateral dysplastic external ears. The left ear of the proband had a neoplasm on the earlobe; B: Bilateral overlapping toes, especially the second toes.
Figure 2 Pedigree and gene mutation of the family.
A: Pedigree of the four-generation family; B: Analysis of SALL1 mutations revealed the heterozygous mutation c.3473delG in the proband (III.3).
- Citation: Fang JX, Zhang JS, Wang MM, Liu L. Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report. World J Clin Cases 2022; 10(20): 7068-7075
- URL: https://www.wjgnet.com/2307-8960/full/v10/i20/7068.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i20.7068