巴西XP-E携带新型DDB2变种的兄弟姐妹患上了早期发生的黑色素瘤:一个病例报告
Ana Rafaela de Souza Timoteo1, Isabel Cristina Pinheiro de Almeida2, Andrey A Yurchenko3
1Departamento de Biologia Celular e Genética, Universidade Federal do Rio Grande do Norte, Av. Senador Salgado Filho, s/n, Natal, 59078-970, RN, Brazil.
BMC medical genomics
|August 12, 2023
概括
黑色素菌群E (XP-E) 是一种罕见的遗传性疾病. 一种新的DDB2基因变异导致巴西兄弟姐妹的早期皮肤癌,突出了诊断挑战和需要防晒的需要.
科学领域:
- 遗传学 遗传学 是一个
- 皮肤病学 皮肤病学
- 在瘤学瘤学.
背景情况:
- Xeroderma pigmentosum群E (XP-E) 是一种罕见的基因皮肤病,其特点是极度敏感于阳光,并具有患皮肤癌的高风险.
- XP-E通常呈现出轻微的表型,导致成年后的诊断延迟.
- 患有XP-E的患者需要严格的光保护,因为他们容易受到阳光引起的DNA损伤.
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