Suppr超能文献

[Nevoid basal-cell carcinoma syndrome (Gorlin Syndrome): report of two cases and review of the literature].

作者信息

Castro-Mujica María Del Carmen, Barletta-Carrillo Claudia, Poterico Julio A, Acosta Marisa, Valer Jesús, Cruz Miguel De La

机构信息

Facultad de Medicina Humana. Universidad Ricardo Palma. Lima, Perú.

Laboratorio Clínico Roe. Lima, Perú.

出版信息

Rev Peru Med Exp Salud Publica. 2017 Oct-Dec;34(4):744-750. doi: 10.17843/rpmesp.2017.344.3014.

Abstract

Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. This study is the first to report cases in Peru of patients with GS who underwent genetic evaluation and counseling. We present two GS cases that meet the clinical criteria for the syndrome and review the literature.

摘要

相似文献

1
[Nevoid basal-cell carcinoma syndrome (Gorlin Syndrome): report of two cases and review of the literature].
Rev Peru Med Exp Salud Publica. 2017 Oct-Dec;34(4):744-750. doi: 10.17843/rpmesp.2017.344.3014.
4
Nevoid basal cell carcinoma syndrome: a review of the literature.痣样基底细胞癌综合征:文献综述
Int J Oral Maxillofac Surg. 2004 Mar;33(2):117-24. doi: 10.1054/ijom.2003.0435.
7
Unusual cystic scalp lesions in Gorlin syndrome: a brief report.
Pediatr Dermatol. 2010 Mar-Apr;27(2):204-7. doi: 10.1111/j.1525-1470.2010.01110.x.
8
First evidence of genotype-phenotype correlations in Gorlin syndrome.戈林综合征基因型与表型相关性的首个证据。
J Med Genet. 2017 Aug;54(8):530-536. doi: 10.1136/jmedgenet-2017-104669. Epub 2017 Jun 8.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验