European Journal of Dermatology
MENUA novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome Volume 19, issue 3, May-June 2009
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Department of Dermatology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan
- DOI : 10.1684/ejd.2009.0627
- Page(s) : 262-3
- Published in: 2009
Auteur(s) : Motonobu Nakamura, Yoshiki Tokura Department of Dermatology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan Nevoid basal cell carcinoma syndrome (NBCCS; Gorlin syndrome; MIM 109400) is an autosomal dominant disease, characterized by a mixture of multiple basal cell carcinomas (BCCs), skeletal anomalies, palmoplantar pits, odontokeratocysts of the jaw and a variety of other tumors [1, 2]. The phenotype [...]