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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Библиографические подробности
Опубликовано в: :Croat Med J
Главные авторы: Musani, Vesna, Ozretić, Petar, Trnski, Diana, Sabol, Maja, Poduje, Sanja, Tošić, Mateja, Šitum, Mirna, Levanat, Sonja
Формат: Artigo
Язык:Inglês
Опубликовано: Croatian Medical Schools 2018
Предметы:
Case Report
Online-ссылка: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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