For: |
Li LT, Zhao J, Chen R, Wang JS. Two novel |
---|---|
URL: | https://www.wjgnet.com/1007-9327/full/v20/i1/326.htm |
Number | Citing Articles |
1 |
Lianhu Yu, Dan Li, Ting Zhang, Yongmei Xiao, Yizhong Wang, Ting Ge. One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype. BMC Nephrology 2022; 23(1) doi: 10.1186/s12882-022-02851-2
|
2 |
Jan van der Beek, Caspar Jonker, Reini van der Welle, Nalan Liv, Judith Klumperman. CORVET, CHEVI and HOPS – multisubunit tethers of the endo-lysosomal system in health and disease. Journal of Cell Science 2019; 132(10) doi: 10.1242/jcs.189134
|
3 |
Rahiya Rehman, Leslia Gonzalez, Kelsey Kolbe, Mohammed Khurram Faizan, William Brucker, Carolina Cerezo. Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings. Clinical Case Reports 2024; 12(5) doi: 10.1002/ccr3.8853
|
4 |
Neng-Li Wang, Yi Lu, Jing-Yu Gong, Xin-Bao Xie, Jing Lin, Kuerbanjiang Abuduxikuer, Mei-Hong Zhang, Jian-She Wang. Molecular findings in children with inherited intrahepatic cholestasis. Pediatric Research 2020; 87(1): 112 doi: 10.1038/s41390-019-0548-8
|
5 |
Yaoyao Zhou, Junfeng Zhang. Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features. Italian Journal of Pediatrics 2014; 40(1) doi: 10.1186/s13052-014-0077-3
|
6 |
Yi‐Ling Qiu, Teng Liu, Kuerbanjiang Abuduxikuer, Chen‐Zhi Hao, Jing‐Yu Gong, Mei‐Hong Zhang, Li‐Ting Li, Yan‐Yan Yan, Jia‐Qi Li, Jian‐She Wang.
Novel missense mutation in
VPS33B
is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome
. Human Mutation 2019; 40(12): 2247 doi: 10.1002/humu.23770
|