2019

1. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

   Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 5

2. Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

   Scientific Reports, Vol. 9, Núm. 1