Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
Annals of Dermatology
;
: 597-601, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-717761
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Taiwán
/
Síndrome del Nevo Basocelular
/
Exones
/
Cicatriz
/
Padre
/
Erizos
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Annals of Dermatology
Año:
2018
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS