Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia
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DOI: 10.3325/cmj.2018.59.20
Abstract: We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity.… read more here.
Keywords: mutations ptch1; gorlin syndrome; hot spot; ptch1 gene ... See more keywords