title: Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009.
authors.forename: Claudia
authors.initials: C
authors.lastname: Santoro
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Marta
authors.initials: M
authors.lastname: Bertoli
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.forename: Dominique
authors.initials: D
authors.lastname: Vidaud
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D001921:Brain / Q000098:blood supply*; D002658:Developmental Disabilities; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006801:Humans