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遗传性泛发性色素异常症伴发“刀砍征”一例及家系调查 被引量:1

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摘要 遗传性泛发性色素异常症(dyschromatosisuniversalishereditaria,DUH)是一种以色素异常改变为特殊表现的遗传性皮肤病,表现为全身泛发大小小等的色素沉着与色素减退混杂呈斑状。该病少见.伴发“刀砍征”者罕见。我们报道1例DUH什发头部刀砍征患者,其家族4代9人同患DUH。
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 2012年第9期676-676,共1页 Chinese Journal of Dermatology
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参考文献3

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同被引文献15

  • 1Xing QH, Wang biT, Chen XD, et 2. A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2 [J]. Am J Hum Genet, 2003, 73 (2): 377-382. DOI: 10.1086/377007.
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  • 8Cui YX, Xia XY, Zhou Y, et al. Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria [J]. PLoS One, 2013, 8 (11): e79808. DOI: 10.1371/journal.pone.0079808.
  • 9Liu H, Li Y, Hung KK, et al. Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dysehromatosis universalis hereditaria[J].PLoS One, 2014, 9(2): e87250. DOI: lO.1371/journal.pone.O087250.
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