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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Bibliographic Details
Published in:Cold Spring Harb Mol Case Stud
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Cold Spring Harbor Laboratory Press 2016
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Research Report
Online Access: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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