Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
Annals of Dermatology
;
: 597-601, 2018.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Taiwan
/
Basal Cell Nevus Syndrome
/
Exons
/
Cicatrix
/
Fathers
/
Hedgehogs
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Dermatology
Year:
2018
Type:
Article
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