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Year | Number of Results |
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1994 | 1 |
2001 | 1 |
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2024 | 0 |
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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nat Genet. 2004 Apr;36(4):400-4. doi: 10.1038/ng1325. Epub 2004 Mar 28.
Nat Genet. 2004.
PMID: 15052268
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.
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.
Item in Clipboard
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
Horslen SP, Quarrell OW, Tanner MS.
Horslen SP, et al.
J Med Genet. 1994 Jan;31(1):62-4. doi: 10.1136/jmg.31.1.62.
J Med Genet. 1994.
PMID: 8151641
Free PMC article.
Review.
Item in Clipboard
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.
Hum Genet. 2006 Oct;120(3):396-409. doi: 10.1007/s00439-006-0232-z. Epub 2006 Aug 1.
Hum Genet. 2006.
PMID: 16896922
Item in Clipboard
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.
Taha D, Khider A, Cullinane AR, Gissen P.
Taha D, et al.
Am J Med Genet A. 2007 Dec 1;143A(23):2835-7. doi: 10.1002/ajmg.a.32051.
Am J Med Genet A. 2007.
PMID: 17994566
No abstract available.
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