Involvement of patched (PTCH) gene in Gorlin syndrome and related disorders: three family cases

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M Situm1, S Levanat, I Crnic

  • 1Department of Molecular Medicine, Rudjer Boskovi Institute, Bijenicka 54, 10000 Zagreb, Croatia.

Croatian Medical Journal
|December 20, 1999
PubMed
Abstract

Insights

Genetic analysis of nevoid basal cell carcinoma syndrome (NBCCS) revealed loss of heterozygosity for PTCH in some cases. However, a direct correlation between genetic alterations and varying NBCCS phenotypes remains unclear, necessitating further research.

Area of Science:

  • Genetics
  • Molecular Biology
  • Dermatology

Background:

  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder.
  • The Shh/PTCH signaling pathway plays a crucial role in development and is implicated in NBCCS.
  • Understanding the genetic basis of NBCCS is essential for diagnosis and treatment.

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