Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia

We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity. One brother also had benign testicular mesothelioma. W...

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Detalles Bibliográficos
Autores principales: Musani, Vesna, Ozretić, Petar, Trnski, Diana, Sabol, Maja, Poduje, Sanja, Tošić, Mateja, Šitum, Mirna, Levanat, Sonja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833102/
https://www.ncbi.nlm.nih.gov/pubmed/29498494
http://dx.doi.org/10.3325/cmj.2018.59.20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833102/
https://www.ncbi.nlm.nih.gov/pubmed/29498494
http://dx.doi.org/10.3325/cmj.2018.59.20

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