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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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Библиографические подробности
Опубликовано в: :Neurogenetics
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: 2016
Предметы:
Online-ссылка: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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