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Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.
Martínez-Fernández ML, Bermejo-Sánchez E, Fernández B, MacDonald A, Fernández-Toral J, Martínez-Frías ML. Martínez-Fernández ML, et al. Among authors: martinez frias ml. Am J Med Genet A. 2014 Feb;164A(2):338-45. doi: 10.1002/ajmg.a.36224. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311462 Review.
Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
Martínez-Frías ML, Ocejo-Vinyals JG, Arteaga R, Martínez-Fernández ML, Macdonald A, Pérez-Belmonte E, Bermejo-Sánchez E, Martínez S. Martínez-Frías ML, et al. Am J Med Genet A. 2014 Mar;164A(3):639-47. doi: 10.1002/ajmg.a.36330. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357464
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P. Palomares M, et al. Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802062 Free PMC article.
285 results