| Autor: |
Castro-Mujica MDC; Facultad de Medicina Humana. Universidad Ricardo Palma. Lima, Perú., Barletta-Carrillo C; Laboratorio Clínico Roe. Lima, Perú.; Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú., Poterico JA; Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú.; Universidad Peruana Cayetano Heredia. Lima, Perú., Acosta M; Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú.; Universidad Peruana Cayetano Heredia. Lima, Perú., Valer J; Facultad de Medicina Humana. Universidad Ricardo Palma. Lima, Perú., Cruz M; Facultad de Medicina Humana. Universidad Ricardo Palma. Lima, Perú. |
| Jazyk: |
Spanish; Castilian |
| Zdroj: |
Revista peruana de medicina experimental y salud publica [Rev Peru Med Exp Salud Publica] 2017 Oct-Dec; Vol. 34 (4), pp. 744-750. |
| DOI: |
10.17843/rpmesp.2017.344.3014 |
| Abstrakt: |
Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. This study is the first to report cases in Peru of patients with GS who underwent genetic evaluation and counseling. We present two GS cases that meet the clinical criteria for the syndrome and review the literature. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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