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• W2012129359 abstract "Nevoid basal cell carcinoma syndrome (also named Gorlin-Goltz syndrome) is a rare disease. Commonly seen features include multiple odontogenic keratocysts (OKCs), nevus-like basal cell carcinoma, and bifid ribs. Genetic alterations of the PTCH1 gene are associated with the disease. Herein, we report the case of a 15-year-old girl who presented with multiple OKCs, a bifid rib, ectopic calcification of the falx cer-ebri, and an arachnoid cyst of the cerebrum. No basal cell carcinoma was identified. In addition, a search for genetic alterations was performed on the patient. We identified a genetic mutation of C→T in exon 12 (c.1686 bp) and a G→C mutation in intron 13 (g.91665 bp) of the PTCH1 gene. Although a similar mutation in exon 12 was reported in a literature search, the mutation in intron 13 has not previously been reported. The patient has continued to be followed-up almost 3 years after the surgery with no recurrence of the OKCs or development of basal cell carcinoma." @default.
• W2012129359 created "2016-06-24" @default.
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• W2012129359 date "2010-09-01" @default.
• W2012129359 modified "2023-09-27" @default.
• W2012129359 title "Nevoid basal cell carcinoma syndrome—case report and genetic study" @default.
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• W2012129359 doi "https://doi.org/10.1016/s1991-7902(10)60024-4" @default.
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