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A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
David B. Beck
, Megan T. Cho
, Francisca Millan
, Carin Yates
, Mark Hannibal
, Bridget O’Connor
,
Marwan Shinawi
, Anne M. Connolly
, Darrel Waggoner
, Sara Halbach
, Brad Angle
, Victoria Sanders
, Yufeng Shen
, Kyle Retterer
, Amber Begtrup
, Renkui Bai
, Wendy K. Chung
Institute of Clinical and Translational Sciences (ICTS)
Division of Genetics and Genomic Medicine
Intellectual and Developmental Disabilities Research Center (IDDRC)
Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
Research output
:
Contribution to journal
›
Article
›
peer-review
33
Scopus citations
Overview
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Keyphrases
Developmental Delay
100%
Hypotonia
100%
Ataxia
100%
Tooth Enamel
100%
Enamel Defects
100%
C-terminal Binding Protein 1
100%
Exome Sequencing
40%
Intellectual Disability
40%
Chromatin
20%
Human Disease
20%
Genetic Causes
20%
Binding Cleft
20%
Missense Variants
20%
Transcriptional Regulator
20%
Regulatory Pathways
20%
Heterogeneous Conditions
20%
Gene Repression
20%
Failure to Thrive
20%
Chromatin-modifying Enzymes
20%
Biochemistry, Genetics and Molecular Biology
C-Terminus
100%
Binding Protein
100%
Synapsin I
100%
Exome Sequencing
33%
Intellectual Disability
33%
Enzyme
16%
Genetics
16%
Missense
16%
Gene Repression
16%