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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Boyden LM, et al. Among authors: rodriguez pazos l. Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7. Br J Dermatol. 2017. PMID: 28403545 Free PMC article. No abstract available.
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Rodríguez-Pazos L, et al. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Actas Dermosifiliogr. 2013. PMID: 23562412 Free article. Review. English, Spanish.
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. Among authors: rodriguez pazos l. 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.
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. Among authors: rodriguez pazos l. Sci Rep. 2019 May 9;9(1):7175. doi: 10.1038/s41598-019-43133-6. Sci Rep. 2019. PMID: 31073126 Free PMC article.
42 results