Archivo diario: Octubre 1, 2008

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

Laurin-Sandrow syndrome: review and redefinition

Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI. Am J Med Genet A. 2008 Oct 1;146A(19):2557-65. Review