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 PTCH1 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...

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Detalles Bibliográficos
Autores principales: Hsu, Shih-Wen, Lin, Chien-yio, Wang, Chuang-Wei, Chung, Wen-Hung, Yang, Chih-Hsun, Chang, Yao-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992485/
https://www.ncbi.nlm.nih.gov/pubmed/33911485
http://dx.doi.org/10.5021/ad.2018.30.5.597

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