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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Barreda-Sánchez M, Rodriguez-Peña L, Martínez-Menchon MT, Frías-Iniesta J, Sánchez-Pedreño P, Carbonell-Meseguer P, Glover-López G, Guillén-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). Martínez-Romero MC, et al. Among authors: carbonell meseguer p. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. Orphanet J Rare Dis. 2019. PMID: 31796081 Free PMC article.
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Barreda-Sánchez M, Buendía-Martínez J, Glover-López G, Carazo-Díaz C, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Rodriguez-Peña L, Serrano-Antón AT, Gil-Ferrer R, Martínez-Romero MDC, Carbonell-Meseguer P, Guillén-Navarro E. Barreda-Sánchez M, et al. Among authors: carbonell meseguer p. Orphanet J Rare Dis. 2019 Feb 26;14(1):59. doi: 10.1186/s13023-019-1031-7. Orphanet J Rare Dis. 2019. PMID: 30808393 Free PMC article.