Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor

We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the gene (c.3450C>G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog inhibi...

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Bibliographic Details

Published in:	Annals of dermatology Vol. 30; no. 5; pp. 597 - 601
Main Authors:	Hsu, Shih-Wen, Lin, Chien-Yio, Wang, Chuang-Wei, Chung, Wen-Hung, Yang, Chih-Hsun, Chang, Yao-Yu
Format:	Journal Article
Language:	English
Published:	Korea (South) The Korean Dermatological Association; The Korean Society for Investigative Dermatology 01-10-2018 대한피부과학회
Subjects:	Case Report 피부과학 PTCH protein Basal cell nevus syndrome Vismodegib
Online Access:	Get full text
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