Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity

A case of xeroderma pigmentosum (XP) group D in a 39‐year‐old Japanese man is reported. The patient had suffered from moderate to severe solar sensitivity and freckle‐like pigmented macules in sun‐exposed areas since 6 years of age, and developed skin malignancies such as squamous cell carcinoma, ac...

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Veröffentlicht in:	Journal of dermatology 2021-01, Vol.48 (1), p.96-100
Hauptverfasser:	Sugaya, Makoto, Funamizu, Kaoru, Kono, Michihiro, Okuno, Yusuke, Kondo, Taisuke, Ono, Ryusuke, Akiyama, Masashi, Nishigori, Chikako, Sato, Shinichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Basal cell carcinoma Carcinoma, Basal Cell Complementation Diagnosis DNA biosynthesis DNA Repair - genetics ERCC2 Erythema Fibroblasts Host cell reactivation host cell reactivation assay Humans Keratosis Male Medical diagnosis Mutation Radiation Tolerance - genetics Skin cancer Skin diseases Skin lesions Squamous cell carcinoma Ultraviolet radiation Ultraviolet Rays - adverse effects unscheduled DNA synthesis Whole Exome Sequencing Xeroderma pigmentosum Xeroderma Pigmentosum - diagnosis Xeroderma Pigmentosum - genetics Xeroderma Pigmentosum Group D Protein XPD protein
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