ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder

We describe a patient with a de novo balanced translocation 46,XY,t(9; 13)(q31.2; q22.1) and autism spectrum disorder, intellectual disability, a metopic craniosynostosis, a corpus callosum dysgenesis and dysmorphic facial features, most notably ptosis. Breakpoint mapping was performed by means of t...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	European Journal of Medical Genetics 2018-07, Vol.61 (7), p.376-383
Hauptverfasser:	Cosemans, Nele, Vandenhove, Laura, Maljaars, Jarymke, Van Esch, Hilde, Devriendt, Koenraad, Baldwin, Amanda, Fryns, Jean-Pierre, Noens, Ilse, Peeters, Hilde
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!