Author:
Zhou Yaoyao,Zhang Junfeng
Publisher
Springer Science and Business Media LLC
Reference38 articles.
1. Lutz-Richner AR, Landolt RF: Familiare Gallengansmissbildungen mit tubularer Neireninsurfizienz. Helv Paediatr Acta. 1973, 28: 1-12.
2. Taha D, Khider A, Cullinane AR, Gissen P: A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. Am J Med Genet A. 2007, 143A (23): 2835-2837. 10.1002/ajmg.a.32051.
3. Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, Garcia-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER: Clinical and molecular genetic features of ARC syndrome. Hum Genet. 2006, 120 (3): 396-409. 10.1007/s00439-006-0232-z.
4. Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM: Arthrogryposis, renal dysfunction and cholestasis syndrome. Saudi Med J. 2000, 21 (3): 297-299.
5. Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER: Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet. 2004, 36 (4): 400-404. 10.1038/ng1325.
Cited by
42 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献