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- Title
Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome.
- Authors
Lee, Y.-W.; Roh, B. H.; Kit, C.-S.; Park, Y. L.; Shin, H. B.; Lee, Y. K.; Choi, T.-Y.; Whang, K. U.
- Abstract
The article presents the case of a 14-year old girl with nevoid basal cell carcinoma syndrome (NBCCS). A novel mutation in the PTCH gene in a Korean family with NBCCS was identified. NBCCS is an autosomal dominant disease with high penetrance and variable expressivity characterized by multiple jaw keratocysts and ectopic calcification of falx. Physical examination revealed mild mental retardation, mild hypertelorism and pectus carinatum on the chest in the patient.
- Subjects
BASAL cell nevus syndrome; BONE abnormalities; CUTANEOUS manifestations of general diseases; GENETIC disorders; JAW cysts; SKIN diseases; DERMATOLOGY
- Publication
Clinical & Experimental Dermatology, 2007, Vol 32, Issue 2, p202
- ISSN
0307-6938
- Publication type
Letter
- DOI
10.1111/j.1365-2230.2006.02142.x