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...

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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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