| 1 | SAT1, KFSD, DUPXP
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| Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
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| Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M.
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| Hum Genet 111(3):235-41. 2002
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| 2 | KFSD
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| Keratosis follicularis spinulosa decalvans : confirmation of linkage to Xp22.13-p22.2.
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| Porteous MEM, et al.
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| J Med Genet 35 : 336-337. 1998
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| 3 | CLS, KFSD, RS1
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| High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.
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| Van de Vosse E, Van der Bent P, Heus JJ, Van Ommen GJ, Den Dunnen JT.
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| Mamm Genome 8(7):497-501. 1997
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| 4 | KFSD
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| Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.
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| Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJ.
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| Hum Genet 100(5-6):520-4. 1997
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| 5 | CLS, RP15, HYP1, KFSD, RS1
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| An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15 : refined localization of RS.
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| Van de Vosse E, et al.
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| Eur J Hum Genet 4 : 101-104. 1996
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| 6 | KFSD
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| Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.
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| Oosterwijk JC, et al.
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| J Med Genet 32 : 736-739. 1995
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| 7 | KFSD
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| Fine mapping of keratosis spinulosa decalvans (KFSD) in Xp22. (abstr)
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| Den Dunnen JT, et al.
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| Cytogenet Cell Genet 67 : 336. 1994
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| 8 | KFSD
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| Keratosis follicularis spinulosa decalvans : a family study of seven male cases and six female carriers.
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| van Osch LDM, et al.
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| J Med Genet 29 : 36-40. 1992
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| 9 | KFSD
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| Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.
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| Oosterwijk JC, et al.
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| Am J Hum Genet 50 : 801-807. 1992
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| 10 | KFSD
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| Linkage analysis and regional assignment of keratosis follicularis spinulosa decalvans to Xp22.2-p21.2.
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| Oosterwijk JC, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2078. 1991
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