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KMID : 1130320070500080789
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Korean Journal of Pediatrics
2007 Volume.50 No. 8 p.789 ~ p.793
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Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions
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Kim Hee-Moon
Lee Chul-Hee
Sung Tae-Jung
Kim Sung-Koo
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Abstract
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Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.
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KEYWORD
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Basal cell nevus syndrome, Odontogenic keratocyst, PTCH mutation
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