两例隐性营养不良型大疱性表皮松解症中间表型病例，携带新型COL7A1突变c.3570G>A。 - Suppr

Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.

作者信息

Akasaka Eijiro, Nakano Hajime, Sawamura Daisuke

机构信息

Department of Dermatology, Hirosaki University Graduate School of Medicine, Aomori, Japan.

出版信息

J Dermatol Sci. 2022 Jun;106(3):193-195. doi: 10.1016/j.jdermsci.2022.04.009. Epub 2022 Apr 25.

DOI:10.1016/j.jdermsci.2022.04.009

PMID:35527172

Abstract

摘要

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Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.

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引用本文的文献

Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the gene in a Chinese family.

Front Pediatr. 2022 Nov 7;10:941201. doi: 10.3389/fped.2022.941201. eCollection 2022.

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Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.

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Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.

作者信息

机构信息

出版信息

相似文献

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