Article
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
American journal of medical genetics. Part A - 1 Nov 2013
Garavelli Livia, Piemontese Maria Rosaria, Cavazza Alberto, Rosato Simonetta, Wischmeijer Anita, Gelmini Chiara, Albertini Enrico, Albertini Giuseppe, Forzano Francesca, Franchi Fabrizia, Carella Massimo, Zelante Leopoldo, Superti-Furga Andrea
Abstract excerpt
Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy...
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