Naslov
Variable expression of Gorlin syndrome may reflect complexity of the signalling pathway

Autori
Levanat, Sonja ; Končar-Mubrin, Mirjana ; Crnić, Ivana ; Šitum, Mirna ; Basta-Juzbašić, Aleksandra

Izvornik
Pflügers Archiv : European journal of physiology (0031-6768) 439 (2000), 3 suppl. S; R31-R33

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
PTCH; Gorlin syndrome; NBCCS; tumor

Sažetak
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin syndrome is an autosomal dominant disorder characterized by cancer predisposition and multiple developmental defects. Syndrome related disorders have been atributted to alterations of PTCH gene, which plays an important role in Shh signalling pathway. Unresolved complexities of the pathway impede understanding of mechanisms through whichPTCH alterations lead to variable phenotype expression in Gorlin syndrome patients, while the role of chromosomal instability is not yet clear. To increase our understanding of NBCCS, every manifestation of the syndrome and associated genetic damage should be seriously considered. Therefore, several atypical NBCCS cases are presented in this paper.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA