Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features

HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2) has been previously associated with intellectual disability and developmental delay in three patients. Here we describe six patients with developmental delay, intellectual disability and dysmorphic features with de novo likely g...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Neurogenetics
Hauptverfasser: Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2016
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4907844/
https://ncbi.nlm.nih.gov/pubmed/27003583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-016-0479-z
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge