U. Esperón-Moldes

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

L. Fachal, A. Vega, J. M. Azaña, 2019, Acta dermato-venereologica.

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

L. Fachal, A. Vega, A. Ordóñez-Ugalde, 2019, Molecular Genetics & Genomic Medicine.

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

L. Fachal, A. Vega, E. Guillén-Navarro, 2020, PloS one.

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

A. Salas, A. Gómez-Carballa, J. Pardo-Seco, 2019, Scientific Reports.

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.

L. Fachal, A. Vega, M. Ginarte, 2018, Journal of dermatological science.

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

A. Salas, A. Gómez-Carballa, J. Pardo-Seco, 2019, Scientific Reports.