Your browser doesn't support javascript.
loading
Gorlin-Like Phenotype in a Young Girl With a De Novo PTCH2 Variant Mutation of Uncertain Significance.
Garcia-Garcia, Mar; García-González, Sergio; Cabañuz, Clara; Prieto-Torres, Lucía.
Afiliación
  • Garcia-Garcia M; Pathology Department, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.
  • García-González S; Unizar, Zaragoza, Spain; and.
  • Cabañuz C; Dermatology Department, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.
  • Prieto-Torres L; Pathology Department, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.
Am J Dermatopathol ; 46(4): 247-251, 2024 Apr 01.
Article en En | MEDLINE | ID: mdl-38354379
ABSTRACT
ABSTRACT Gorlin syndrome, also known as basal cell nevus syndrome, is an autosomal dominant genetic disorder that predisposes humans to tumors. In most cases, this syndrome results from inactivating mutations in the patched homologue 1 gene. Basal cell carcinomas are one of the main characteristics of this syndrome and serve as a major diagnostic criterion. Gorlin syndrome shows a variable phenotype, and recently, other less common mutations in the suppressor of fused homologue or patched homologue 2 genes have been documented in individuals with this syndrome. We present the case of a patient with early-onset basal cell carcinomas and a mild Gorlin syndrome phenotype, attributed to a de novo patched homologue 2 variant of uncertain significance, which has not been previously reported in the literature.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome del Nevo Basocelular Límite: Female / Humans Idioma: En Revista: Am J Dermatopathol Año: 2024 Tipo del documento: Article País de afiliación: España

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome del Nevo Basocelular Límite: Female / Humans Idioma: En Revista: Am J Dermatopathol Año: 2024 Tipo del documento: Article País de afiliación: España