Haploinsufficiency of BCL 11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

BackgroundChromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microde...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Molecular genetics & genomic medicine 2017-07, Vol.5 (4), p.429-437
Hauptverfasser:	Shimbo, Hiroko, Yokoi, Takayuki, Aida, Noriko, Mizuno, Seiji, Suzumura, Hiroshi, Nagai, Junichi, Ida, Kazumi, Enomoto, Yumi, Hatano, Chihiro, Kurosawa, Kenji
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Brain Cerebellum Chromatin remodeling Chromosome 19 Chromosome deletion Delay DNA microarrays Genetic disorders Growth rate Haploinsufficiency Hemispheres Hybridization Hypoplasia Magnetic resonance imaging Microencephaly Neuroimaging Patients Pons Zinc Zinc finger proteins
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!