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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Detalhes bibliográficos
Publicado no:Croat Med J
Main Authors: Musani, Vesna, Ozretić, Petar, Trnski, Diana, Sabol, Maja, Poduje, Sanja, Tošić, Mateja, Šitum, Mirna, Levanat, Sonja
Formato: Artigo
Idioma:Inglês
Publicado em: Croatian Medical Schools 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5833102/
https://ncbi.nlm.nih.gov/pubmed/29498494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3325/cmj.2018.59.20
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