A case of Cockayne syndrome with unusually mild clinical manifestations.

Tsujimoto, Mariko; Nakano, Eiji; Nakazawa, Yuka; Kanda, Fumio; Ueda, Takehiro; Ogi, Tomoo; Nishigori, Chikako

Tsujimoto, Mariko; Nakano, Eiji; Nakazawa, Yuka; Kanda, Fumio; Ueda, Takehiro; Ogi, Tomoo; Nishigori, Chikako.

Afiliação

Tsujimoto M; Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
Nakano E; Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
Nakazawa Y; Department of Genetics, Research Institute of Environment of Medicine, Nagoya University, Nagoya, Japan.
Kanda F; Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Ueda T; Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
Ogi T; Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
Nishigori C; Department of Genetics, Research Institute of Environment of Medicine, Nagoya University, Nagoya, Japan.

J Dermatol ; 50(4): 541-545, 2023 Apr.

Article em En | MEDLINE | ID: mdl-36597170

Assuntos

Síndrome de Cockayne; Reparo do DNA; Humanos; Feminino; Criança; Adolescente; Síndrome de Cockayne/complicações; Síndrome de Cockayne/diagnóstico; Síndrome de Cockayne/genética

Palavras-chave

delayed UV erythema peak; demyelination; extreme sunburn; recovery of RNA synthesis; transcription-coupled nucleotide excision repair

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Cockayne / Reparo do DNA Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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