De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). Our findings are...

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Библиографические подробности
Опубликовано в: :Cold Spring Harb Mol Case Stud
Главные авторы: Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.
Формат: Artigo
Язык:Inglês
Опубликовано: Cold Spring Harbor Laboratory Press 2016
Предметы:
Research Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4849844/
https://ncbi.nlm.nih.gov/pubmed/27148580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000661
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