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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Vydáno v:Croat Med J
Hlavní autoři: Musani, Vesna, Ozretić, Petar, Trnski, Diana, Sabol, Maja, Poduje, Sanja, Tošić, Mateja, Šitum, Mirna, Levanat, Sonja
Médium: Artigo
Jazyk:Inglês
Vydáno: Croatian Medical Schools 2018
Témata:
Case Report
On-line přístup: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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