Croatian medical journal
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Croatian medical journal · Dec 1999
Case ReportsInvolvement of patched (PTCH) gene in Gorlin syndrome and related disorders: three family cases.
To find genetic alterations in PTC or other genes of the Shh/PTCH pathway in tumorous and non- tumorous samples from three families and to correlate them with the varying expression of disorders in presented nevoid basal cell carcinoma syndrome (NBCCS) phenotypes. ⋯ Further analysis of relatively sparse cases of NBCCS is needed before the symptoms of the syndrome could be convincingly explained by genetic alterations in the Shh/PTCH signalling pathway.