Article
Germline gain-of-function mutations of ALK disrupt central nervous system development.
Human mutation - 1 Mar 2011
de Pontual Loïc, Kettaneh Dania, Gordon Christopher T, Oufadem Myriam, Boddaert Nathalie, Lees Melissa, Balu Laurent, Lachassinne Eric, Petros Andy, Mollet Julie, Wilson Louise C, Munnich Arnold, Brugière Laurence, Delattre Olivier, Vekemans Michel, Etchevers Heather, Lyonnet Stanislas, Janoueix-Lerosey Isabelle, Amiel Jeanne
Abstract excerpt
Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic lymphoma receptor tyrosine kinase (ALK) gene, either somatic or germline, were identified in a significant proportion of NB cases. Here we report a novel syndromic presentation associating congenital NB with severe...
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