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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez-Ugalde A, Moscoso F, Ugalde-Noritz N, Santomé L, Fachal L, Tettamanti-Miranda D, Ruiz JC, Ginarte M, Vega A. Montalván-Suárez M, et al. Among authors: esperon moldes us. Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27. Mol Genet Genomic Med. 2019. PMID: 30916489 Free PMC article.
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
Esperón-Moldes U, Ginarte M, Rodríguez-Pazos L, Fachal L, Pozo T, Aguilar JL, Del Boz González J, Santiago AM, Vega A. Esperón-Moldes U, et al. J Dermatol Sci. 2018 Sep;91(3):328-331. doi: 10.1016/j.jdermsci.2018.05.012. Epub 2018 Jun 5. J Dermatol Sci. 2018. PMID: 29887490 Free article. No abstract available.
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
Esperón-Moldes U, Ginarte-Val M, Rodríguez-Pazos L, Fachal L, Martín-Santiago A, Vicente A, Jiménez-Gallo D, Guillén-Navarro E, Sampol LM, González-Enseñat MA, Vega A. Esperón-Moldes U, et al. PLoS One. 2020 Feb 18;15(2):e0229025. doi: 10.1371/journal.pone.0229025. eCollection 2020. PLoS One. 2020. PMID: 32069299 Free PMC article.
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.
Esperón-Moldes US, Pardo-Seco J, Montalván-Suárez M, Fachal L, Ginarte M, Rodríguez-Pazos L, Gómez-Carballa A, Moscoso F, Ugalde-Noritz N, Ordóñez-Ugalde A, Tettamanti-Miranda D, Ruiz JC, Salas A, Vega A. Esperón-Moldes US, et al. Sci Rep. 2019 May 9;9(1):7175. doi: 10.1038/s41598-019-43133-6. Sci Rep. 2019. PMID: 31073126 Free PMC article.