Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
Annals of Dermatology
; : 597-601, 2018.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-717761
Biblioteca responsável:
WPRO
ABSTRACT
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 inhibitor in Taiwan. The lesions regressed gradually, with scar formation, and were subsequently removed via a wide excision. Further details are provided below.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Taiwan
/
Síndrome do Nevo Basocelular
/
Éxons
/
Cicatriz
/
Pai
/
Ouriços
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Annals of Dermatology
Ano de publicação:
2018
Tipo de documento:
Artigo