Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report

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Oct 26, 2022 (publication date) through Jun 29, 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. Oct 26, 2022; 10(30): 11016-11022
Published online Oct 26, 2022. doi: 10.12998/wjcc.v10.i30.11016

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Figure 1 The child had yellow, dry skin with joint contracture and could not straighten her limbs.

Citation: Yang H, Lin SZ, Guan SH, Wang WQ, Li JY, Yang GD, Zhang SL. Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report. World J Clin Cases 2022; 10(30): 11016-11022
URL: https://www.wjgnet.com/2307-8960/full/v10/i30/11016.htm
DOI: https://dx.doi.org/10.12998/wjcc.v10.i30.11016