毛发硫营养不良——BIDS、IBIDS和PIBIDS？ - Suppr

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Trichothiodystrophy--BIDS, IBIDS and PIBIDS?

作者信息

Crovato F, Borrone C, Rebora A

出版信息

Br J Dermatol. 1983 Feb;108(2):247. doi: 10.1111/j.1365-2133.1983.tb00068.x.

DOI:10.1111/j.1365-2133.1983.tb00068.x

PMID:6824580

Abstract

摘要

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Trichothiodystrophy--BIDS, IBIDS and PIBIDS?毛发硫营养不良——BIDS、IBIDS和PIBIDS？

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Short stature with congenital ichthyosis.身材矮小伴先天性鱼鳞病。

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Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.无光敏性的毛发硫营养不良。生化、超微结构及DNA修复研究。

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Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.你知道这种综合征吗？鱼鳞病伴神经系统疾病和毛发改变。

An Bras Dermatol. 2018 Jan-Feb;93(1):135-137. doi: 10.1590/abd1806-4841.20187727.

Trichothiodystrophy and ichthyosis as diagnostic signs.

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[Trichothiodystrophy and hypereosinophilic syndrome, an unusual association].毛发硫营养不良与高嗜酸性粒细胞综合征，一种不寻常的关联

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引用本文的文献

Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.一名4岁女孩出现头发脆弱、发育迟缓、神经异常和光敏性症状。

J Am Acad Dermatol. 2010 Aug;63(2):323-8. doi: 10.1016/j.jaad.2010.03.041.

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.毛发硫营养不良：对112例已发表病例的系统评价描绘了广泛的临床表现谱。

J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25.

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）。

Eur J Pediatr. 1984 Jan;141(3):147-52. doi: 10.1007/BF00443212.

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）。

Eur J Pediatr. 1984 Aug;142(3):233-4. doi: 10.1007/BF00442459.

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.

Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.无光敏性的毛发硫营养不良。生化、超微结构及DNA修复研究。

Eur J Pediatr. 1988 May;147(4):439-41. doi: 10.1007/BF00496431.

Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.

Hum Genet. 1988 Jan;78(1):106-8. doi: 10.1007/BF00291250.

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