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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Croat Med J
Asıl Yazarlar: Musani, Vesna, Ozretić, Petar, Trnski, Diana, Sabol, Maja, Poduje, Sanja, Tošić, Mateja, Šitum, Mirna, Levanat, Sonja
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Croatian Medical Schools 2018
Konular:
Case Report
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller