色素性干皮病
医学
遗传学
外显子
皮肤病科
DNA
生物
DNA修复
基因
作者
Rodolfo David Palacios‐Diaz,Miguel Ángel Navarro‐Mira,R. Ballester‐Sánchez,Anaid Calle‐Andrino,Blanca de Unamuno‐Bustos,Rafael Botella‐Estrada
摘要
Abstract The association of multiple pilomatricomas with xeroderma pigmentosum has not been described. We report a case of a child with multiple pilomatricomas and photosensitivity who was found to have a pathogenic variant in exon 4 of XPA and a likely pathogenic variant in COL6A1 .
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