Does a novel APC mutation define a second locus for Cenani-Lenz syndrome?
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.
Our liposuctioned autologous fat injection histologically offered long-term improvement in patients with impaired glottal closure from vocal fold paralysis.