Publications by authors named "Jesus D Melchor-Soto"
BMC Med Genet
January 2013
Article Synopsis
- Papillon-Lefèvre Syndrome (PLS) is a rare genetic condition linked to mutations in the CTSC gene, with little known about its prevalence in México, though 20 cases have been identified in Sinaloa.
- Research on nine patients revealed normal CTSC gene expression but significantly reduced enzymatic activity, alongside a novel mutation (c.203 T > G) found in all patients and polymorphism (c.458C > T) in some.
- The study identified a significant association with the HLA-DRB1*11 allele in patients, suggesting that further investigation could enhance understanding of PLS and its impact in the Mexican population.
