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汗孔性外胚层发育不良

[Hidrotic ectodermal dysplasia].

作者信息

Altmeyer P, Schindera I

出版信息

Hautarzt. 1975 Dec;26(12):631-7.

PMID:1213883
Abstract

This paper reports a family with typical features of hidrotic ectodermal dysplasia (h.e.d.). Although some members of the family showed phenotypical similarities to anhidrotic ectodermal dysplasia, there is no doubt about the classification of this disorder into hidrotic ectodermal dysplasia because of its manifest symptomatology (hypo- and dystrichosis deformity of nails, autosomal-dominant heredity, normal sweating). This suggests that the phenotypical similarities are obvious and important findings of h.e.d.

摘要

本文报道了一个具有典型汗孔性外胚层发育不良(h.e.d.)特征的家族。尽管该家族的一些成员表现出与无汗性外胚层发育不良的表型相似性,但由于其明显的症状(指甲发育不全和营养不良畸形、常染色体显性遗传、出汗正常),毫无疑问该病症应归类为汗孔性外胚层发育不良。这表明表型相似性是汗孔性外胚层发育不良明显且重要的发现。

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[Hidrotic ectodermal dysplasia].
Hautarzt. 1975 Dec;26(12):631-7.
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