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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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.
स्वरूप: मूलपाठ
भाषा:अंग्रेज़ी
प्रकाशित: Cold Spring Harbor Laboratory Press 2016
विषय:
ऑनलाइन पहुंच:https://pmc.ncbi.nlm.nih.gov/articles/PMC4849844/
https://pubmed.ncbi.nlm.nih.gov/27148580
http://dx.doi.org/10.1101/mcs.a000661
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