PIBI(D)S syndrome: a new entity with defect of the deoxyribonucleic acid excision repair system.
作者信息
Crovato F, Rebora A
出版信息
J Am Acad Dermatol. 1985 Oct;13(4):683-6. doi: 10.1016/s0190-9622(85)80466-7.
PMID:4078066
Abstract
摘要
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PIBI(D)S syndrome: a new entity with defect of the deoxyribonucleic acid excision repair system.PIBI(D)S综合征：一种伴有脱氧核糖核酸切除修复系统缺陷的新病症。
J Am Acad Dermatol. 1985 Oct;13(4):683-6. doi: 10.1016/s0190-9622(85)80466-7.
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PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.PIBI（D）S综合征——伴有着色性干皮病（D组）突变的毛发硫营养不良症
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Trichothiodystrophy--BIDS, IBIDS and PIBIDS?毛发硫营养不良——BIDS、IBIDS和PIBIDS？
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Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.一名患有PIBI(D)S综合征和毛发硫营养不良伴DNA修复缺陷——着色性干皮病D组的儿童出现间歇性脱发。
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The Tay syndrome (congenital ichthyosis with trichothiodystrophy).泰伊综合征（先天性鱼鳞病伴毛发硫营养不良）。
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引用本文的文献
1
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.患有光敏感型毛发硫营养不良的患者存在着色性干皮病（互补组D）突变。
Hum Genet. 1986 Oct;74(2):107-12. doi: 10.1007/BF00282072.
2
Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.
Hum Genet. 1988 Jan;78(1):106-8. doi: 10.1007/BF00291250.
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