两名来自患有局限性线状型疾病父母的非亲缘关系儿童的全身性表皮松解性角化过度及产前诊断。 - Suppr

Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.

作者信息

Chassaing Nicolas, Kanitakis Jean, Sportich Stéphanie, Cordier-Alex Marie-Pierre, Titeux Matthias, Calvas Patrick, Claudy Alain, Berbis P, Hovnanian Alain

出版信息

J Invest Dermatol. 2006 Dec;126(12):2715-7. doi: 10.1038/sj.jid.5700553. Epub 2006 Sep 21.

DOI:10.1038/sj.jid.5700553

PMID:16990804

Abstract

摘要

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Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.两名来自患有局限性线状型疾病父母的非亲缘关系儿童的全身性表皮松解性角化过度及产前诊断。

J Invest Dermatol. 2006 Dec;126(12):2715-7. doi: 10.1038/sj.jid.5700553. Epub 2006 Sep 21.

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Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.表皮松解性鱼鳞病中一种新的角蛋白10突变的广泛合子后镶嵌现象。

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[Case no. 7. Bullous dermatosis].[病例7. 大疱性皮肤病]

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J Invest Dermatol. 2017 Sep;137(9):2024-2026. doi: 10.1016/j.jid.2017.04.036. Epub 2017 May 19.

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Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.

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