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A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Language Impairment Resulting from a de novo Deletion of 7q32.1q33.
Jiménez-Romero MS, Barcos-Martínez M, Espejo-Portero I, Benítez-Burraco A. Jiménez-Romero MS, et al. Among authors: espejo portero i. Mol Syndromol. 2016 Oct;7(5):292-298. doi: 10.1159/000448208. Epub 2016 Aug 6. Mol Syndromol. 2016. PMID: 27867345 Free PMC article.
[Partial trisomy and mosaicism associated with Fallot Tetralogy].
Tejero Hernández MA, Gómez Guzmán E, Espejo Portero I, Barcos M. Tejero Hernández MA, et al. Among authors: espejo portero i. An Pediatr (Barc). 2011 Jan;74(1):55-6. doi: 10.1016/j.anpedi.2010.08.004. Epub 2010 Dec 10. An Pediatr (Barc). 2011. PMID: 20971045 Free article. Spanish. No abstract available.