A novel APC mutation defines a second locus for Cenani-Lenz syndrome Academic Article uri icon

Overview

MeSH Major

  • Adenomatous Polyposis Coli Protein
  • Genetic Association Studies
  • Mutation
  • Quantitative Trait Loci
  • Syndactyly

abstract

  • In a pattern similar to how LRP4 mutations are predicted to negate the protein's antagonistic effect on Wnt/β-catenin signalling, we propose that reduction of APC may increase the availability of β-catenin by virtue of impaired degradation, leading to a similar phenotypic outcome. This is the first time APC is linked to a human phenotype distinct from its established role in oncology.

publication date

  • February 12, 2015

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1136/jmedgenet-2014-102850

PubMed ID

  • 25676610

Additional Document Info

start page

  • 317

end page

  • 21