A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum.

Reyes, Haider H; Lin, Yu-Chen; Hsu, Chao-Kai; Guevara, Bryan Edgar K

Reyes, Haider H; Lin, Yu-Chen; Hsu, Chao-Kai; Guevara, Bryan Edgar K.

Afiliação

Reyes HH; Department of Dermatology, Southern Philippines Medical Center, Davao City, Philippines.
Lin YC; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Hsu CK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Guevara BEK; Department of Dermatology, Southern Philippines Medical Center, Davao City, Philippines.

Australas J Dermatol ; 64(2): e165-e167, 2023 May.

Article em En | MEDLINE | ID: mdl-36866916

Assuntos

Carcinoma de Células Escamosas; Xeroderma Pigmentoso; Pré-Escolar; Feminino; Humanos; Mutação; Xeroderma Pigmentoso/complicações; Xeroderma Pigmentoso/genética; Xeroderma Pigmentoso/patologia; Proteína de Xeroderma Pigmentoso Grupo A/genética

Palavras-chave

XPA gene; genetics; genodermatoses; squamous cell carcinoma; xeroderma pigmentosum

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Xeroderma Pigmentoso / Carcinoma de Células Escamosas Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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