Article
Variable expression of Gorlin syndrome may reflect complexity of the signalling pathway.
Pflugers Archiv : European journal of physiology - 1 Jan 2000
Levanat S, Mubrin M K, Crnić I, Situm M, Basta-Juzbasić A
Abstract excerpt
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 attributed to alterations of PTCH gene, which plays an important role in Shh signalling pathway. Unresolved complexities of the pathway impede understanding of mechanisms through which PTCH alterations lead...
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