A small and active ring X chromosome in a female with features of Kabuki syndrome
Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML. Am J Med Genet A. 2008 Nov 1;146A(21):2816-21
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Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum
Ballesta Martínez MJ, Guillén Navarro E, López Expósito I, Bafalliu Vidal JA, Domingo Jiménez R, Guía Torrent JM, Robles Sánchez F, Sánchez Solís de Querol M. An Pediatr (Barc). 2008 Oct;69(4):304-10. Spanish
Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I
Martínez-Lage JF, Ruiz-Espejo A, Guillén-Navarro E, Almagro MJ. J Neurosurg. 2008 Oct;109(4):746-50
Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association
López-Gutiérrez JC, Lapunzina P. Am J Med Genet A. 2008 Oct 15;146A(20):2583-8