Author:
Cullinane Andrew R.,Straatman-Iwanowska Anna,Seo Jeong K.,Ko Jae S.,Song Kyung S.,Gizewska Maria,Gruszfeld Dariusz,Gliwicz Dorota,Tuysuz Beyhan,Erdemir Gulin,Sougrat Rachid,Wakabayashi Yoshiyuki,Hinds Rupert,Barnicoat Angela,Mandel Hanna,Chitayat David,Fischler Bj��rn,Garcia-Cazorla Angels,Knisely A. S.,Kelly Deirdre A.,Maher Eamonn R.,Gissen Paul
Subject
Genetics(clinical),Genetics
Cited by
29 articles.
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1. Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders;Cells;2022-11-21
2. Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome;Journal of Thrombosis and Haemostasis;2022-07
3. Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant;Frontiers in Genetics;2022-02-25
4. 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;2019-09-03
5. An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions;Pediatric Nephrology;2019-08-28