一名患有疣状表皮发育异常（树人综合征）女性的体细胞无义突变。
An nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome).
作者信息
Uddin K M Furkan, Amin Robed, Majumder Sabbiha Nadia, Aleem Mohammad Abdul, Rahaman Atikur, Dity Nushrat Jahan, Baqui M D Abdul, Akter Hosneara, Rahman Muhammad Mizanur, Woodbury-Smith Marc, Scherer Stephen, Uddin Mohammed
机构信息
Holy Family Red Crescent Medical College Dhaka Bangladesh.
NeuroGen Technologies Ltd. Dhaka Bangladesh.
出版信息
Clin Case Rep. 2018 Jun 5;6(8):1426-1430. doi: 10.1002/ccr3.1595. eCollection 2018 Aug.
Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. Here we report the first female severe EV case in Bangladesh, a 10-year-old girl with a nonsense somatic mutation impacting gene.
疣状表皮发育不良（EV）是一种极其罕见的遗传性皮肤病，其特征是对人乳头瘤病毒（HPV）易感性异常，皮肤恶性肿瘤风险增加。在此，我们报告孟加拉国首例女性重症EV病例，一名10岁女孩，其体细胞发生无义突变，影响 基因。
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