- Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor
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Hsu SW, Lin CY, Wang CW, Chung WH, Yang CH, Chang YY
- KMID: 2419752
- Ann Dermatol.
- 2018 Oct;30(5):597-601.
- doi: 10.5021/ad.2018.30.5.597
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... -
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