Publicacións nas que colabora con Uxía Saraiva Esperón Moldes (4)

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

  3. Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters

    Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 4, pp. 763-765

2018

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

    Journal of Dermatological Science