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Novel splice mutation in CDSN gene causing type b peeling skin syndrome.
Navarro-Navarro I, Jiménez-Gallo D, de la Varga-Martínez R, Villegas-Romero I, Mora-López F, Linares-Barrios M, Youssefian L, Vahidnezhad H, Uitto J. Navarro-Navarro I, et al. Among authors: mora lopez f. J Eur Acad Dermatol Venereol. 2022 Jun;36(6):e456-e460. doi: 10.1111/jdv.17949. Epub 2022 Feb 3. J Eur Acad Dermatol Venereol. 2022. PMID: 35067988 No abstract available.
Two new mutations in the PPOX gene in a patient with variegate porphyria.
Collantes-Rodríguez C, de la Varga-Martínez R, Villegas-Romero I, Jiménez-Gallo D, Linares-Barrios M, Mora-López F. Collantes-Rodríguez C, et al. Among authors: mora lopez f. J Dtsch Dermatol Ges. 2020 Apr;18(4):381-383. doi: 10.1111/ddg.14079. Epub 2020 Apr 4. J Dtsch Dermatol Ges. 2020. PMID: 32247286 No abstract available.
Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene.
Castellano-Martinez A, Acuñas-Soto S, Varga-Martinez R, Rodriguez-Gonzalez M, Mora-Lopez F, Iriarte-Gahete M, Roldan-Cano V. Castellano-Martinez A, et al. Among authors: mora lopez f. Endocr Metab Immune Disord Drug Targets. 2022;22(8):888-894. doi: 10.2174/1871530322666220223154028. Endocr Metab Immune Disord Drug Targets. 2022. PMID: 35209826
22 results