A case of adult-onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763.

Akasaka, Eijiro; Rokunohe, Daiki; Nakano, Hajime; Yamatani, Shingo; Sawamura, Daisuke

Akasaka, Eijiro; Rokunohe, Daiki; Nakano, Hajime; Yamatani, Shingo; Sawamura, Daisuke.

Afiliação

Akasaka E; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Rokunohe D; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Nakano H; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Yamatani S; Kiku Hifuka Dermatology Clinic, Hachinohe, Japan.
Sawamura D; Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

J Dermatol ; 51(3): e74-e76, 2024 Mar.

Article em En | MEDLINE | ID: mdl-37850631

Assuntos

Epidermólise Bolhosa Distrófica; Adulto; Humanos; Epidermólise Bolhosa Distrófica/diagnóstico; Epidermólise Bolhosa Distrófica/genética; Mutação; Colágeno/genética; Colágeno Tipo VII/genética; Linhagem; Genes Recessivos

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Distrófica Limite: Adult / Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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