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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Foilsithe in:Croat Med J
Main Authors: Musani, Vesna, Ozretić, Petar, Trnski, Diana, Sabol, Maja, Poduje, Sanja, Tošić, Mateja, Šitum, Mirna, Levanat, Sonja
Formáid: Artigo
Teanga:Inglês
Foilsithe: Croatian Medical Schools 2018
Ábhair:
Case Report
Rochtain Ar Líne: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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