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。
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.
作者
陈美余
陶识丞
陈国生
唐弈遥
麦华明
Chen Meiyu;Tao Shicheng;Chen Guosheng;Tang Yiyao;Mai Huaming(College&Hospital of Stomatology,Guangxi Medical University,Guangxi Key Laboratory of Oral and Maxillofacial Rehabilitation and Reconstruction,Guangxi Clinical Research Center for Craniofacial Deformity,Nanning 530021,China)
出处
《华西口腔医学杂志》
CAS
CSCD
北大核心
2022年第2期240-245,共6页
West China Journal of Stomatology
