Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report

doi:10.12998/wjcc.v11.i23.5567

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Aug 16, 2023 (publication date) through Jul 24, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Aug 16, 2023; 11(23): 5567-5572
Published online Aug 16, 2023. doi: 10.12998/wjcc.v11.i23.5567

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Figure 2 Identification of the heterozygous variant in the family. A: Pedigree of the Chinese family. Affected family members are denoted in color. Three members (I-2, II-2 and III-4) underwent genetic study, while others were verified by Sanger sequencing. Arrow indicates the proband; B: Direct Sanger sequencing confirmed the heterozygous variant in SALL1 gene.

Citation: Wu J, Zhang J, Xiao TL, He T. Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report. World J Clin Cases 2023; 11(23): 5567-5572
URL: https://www.wjgnet.com/2307-8960/full/v11/i23/5567.htm
DOI: https://dx.doi.org/10.12998/wjcc.v11.i23.5567