Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, <it>MN1 </it>(meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

• Autori principali: Davidson Tom B (Autore), Sanchez-Lara Pedro A (Autore), Randolph Linda M (Autore), Krieger Mark D (Autore), Wu Shi-Qi (Autore), Panigrahy Ashok (Autore), Shimada Hiroyuki (Autore), Erdreich-Epstein Anat (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2012-03-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Pierre-Robin sequence (PRS) is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2) is an autosomal domina...