痣样基底细胞癌综合征伴先天性左眼缺失1例
Nevoid basal cell carcinoma syndrome with anophthalmia: a case report
作者：陈美余, 陶识丞, 陈国生, 唐弈遥, 麦华明
Author：Chen Meiyu, Tao Shicheng, Chen Guosheng, Tang Yiyao, Mai Huaming.
收稿日期：2021-01-27 年卷（期）页码：2022,40(2):240-240-245
期刊名称：华西口腔医学杂志
Journal Name：West China Journal of Stomatology
关键字：痣样基底细胞癌综合征,牙源性角化囊肿,基底细胞癌,
Key words：nevoid basal cell carcinoma syndrome,odontogenic keratocyst,basal cell carcinoma,
基金项目：
中文摘要
痣样基底细胞癌综合征（NBCCS）又称基底细胞痣综合征或Goltz-Gorlin综合征，是一种复杂且罕见的常染色体显性遗传疾病，大量研究文献证实PTCH1基因与NBCCS有关。本文报道1例NBCCS伴先天性左眼缺失的病例，并结合相关文献探讨以进一步了解该综合征。
英文摘要
Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome or Goltz-Gorlin syndrome, is a complex and rare autosomal dominant inherited disease. A large number of studies have confirmed that PTCH1 gene is associated with NBCCS. This study presents a case of NBCCS with anophthalmia of the left eye. It explores and delves deep into the syndrome while conducting a relevant literature review.
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