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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Neurogenetics
Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: 2016
נושאים:
Article
גישה מקוונת: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
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