Clinical and molecular characterization of Italian patients affected by Cohen syndrome
β Scribed by Eleni Katzaki; Chiara Pescucci; Vera Uliana; Filomena Tiziana Papa; Francesca Ariani; Ilaria Meloni; Manuela Priolo; Angelo Selicorni; Donatella Milani; Rita Fischetto; Maria Elena Celle; Rita Grasso; Bruno Dallapiccola; Francesco Brancati; Marta Bordignon; Romano Tenconi; Antonio Federico; Francesca Mari; Alessandra Renieri; Ilaria Longo
- Book ID
- 106252255
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 283 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1435-232X
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## Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop