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.

Afiliación

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 en En | MEDLINE | ID: mdl-36866916

Asunto(s)

Carcinoma de Células Escamosas; Xerodermia Pigmentosa; Preescolar; Femenino; Humanos; Mutación; Xerodermia Pigmentosa/complicaciones; Xerodermia Pigmentosa/genética; Xerodermia Pigmentosa/patología; Proteína de la Xerodermia Pigmentosa del Grupo A/genética

Palabras clave

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

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Xerodermia Pigmentosa / Carcinoma de Células Escamosas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Australas J Dermatol Año: 2023 Tipo del documento: Article País de afiliación: Filipinas

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