同一家庭中具有两种临床表型的COL7A1 G2287R突变：新生儿大疱性皮肤松解症和营养不良性瘙痒性大疱性表皮松解症。 - Suppr

COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa.

作者信息

Chao Yuan-Chen, Hong Jin-Bon, Liu Connie, Lee Meng-Sui, Lin Ruey-Yi

机构信息

Department of Dermatology, Taipei City Hospital, Taipei, Taiwan.

Department of Dermatology, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.

出版信息

J Dermatol. 2022 Sep;49(9):e313-e314. doi: 10.1111/1346-8138.16430. Epub 2022 May 13.

DOI:10.1111/1346-8138.16430

PMID:35560343

Abstract

摘要

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COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa.

J Dermatol. 2022 Sep;49(9):e313-e314. doi: 10.1111/1346-8138.16430. Epub 2022 May 13.

Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation.

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COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa.

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COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa.

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