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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
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. Gissen P, et al. Among authors: mckiernan pj. Nat Genet. 2004 Apr;36(4):400-4. doi: 10.1038/ng1325. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052268
Clinical and molecular genetic features of ARC syndrome.
Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, García-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER. Gissen P, et al. Among authors: mckiernan pj. Hum Genet. 2006 Oct;120(3):396-409. doi: 10.1007/s00439-006-0232-z. Epub 2006 Aug 1. Hum Genet. 2006. PMID: 16896922
Metabolic liver disease in the pediatric patient.
Kelly DA, McKiernan PJ. Kelly DA, et al. Among authors: mckiernan pj. Clin Liver Dis. 1998 Feb;2(1):1-30, v. doi: 10.1016/s1089-3261(05)70361-5. Clin Liver Dis. 1998. PMID: 15560043 Review.
ARC syndrome: an expanding range of phenotypes.
Eastham KM, McKiernan PJ, Milford DV, Ramani P, Wyllie J, van't Hoff W, Lynch SA, Morris AA. Eastham KM, et al. Among authors: mckiernan pj. Arch Dis Child. 2001 Nov;85(5):415-20. doi: 10.1136/adc.85.5.415. Arch Dis Child. 2001. PMID: 11668108 Free PMC article. Review.
250 results