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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing o... Full description

Journal Title: Nature Communications Nov 2018, Vol.9, pp.1-12
Main Author: Rousseau, Justine
Other Authors: Twist, Joanna , Ehresmann, Sophie , Takaku, Motoki , Venselaar, Hanka , Rodan, Lance , Nowak, Catherine , Douglas, Jessica , Swoboda, Kathryn , Steeves, Marcie , Sahai, Inderneel , Stegmann, Alexander , Wheeler, Patricia , Willing, Marcia , Fiala, Elise , Kochhar, Aaina , Gibson, William , Cohen, Ana , Agbahovbe, Ruky , Innes
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 20411723 ; DOI: 10.1038/s41467-018-06014-6
Zum Text:
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title: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
format: Article
creator:
  • Rousseau, Justine
  • Twist, Joanna
  • Ehresmann, Sophie
  • Takaku, Motoki
  • Venselaar, Hanka
  • Rodan, Lance
  • Nowak, Catherine
  • Douglas, Jessica
  • Swoboda, Kathryn
  • Steeves, Marcie
  • Sahai, Inderneel
  • Stegmann, Alexander
  • Wheeler, Patricia
  • Willing, Marcia
  • Fiala, Elise
  • Kochhar, Aaina
  • Gibson, William
  • Cohen, Ana
  • Agbahovbe, Ruky
  • Innes
subjects:
  • Speech
  • Proteins
  • Missense Mutation
  • Children
  • Gene Sequencing
  • Genomes
  • Mutation
  • Language
  • Phenotypes
  • Disorders
  • Three Dimensional Models
  • Neurodevelopmental Disorders
  • Disruption
  • Speech
  • Brain
  • Remodeling
  • Chromatin Remodeling
  • Adenosine Triphosphatase
  • Children
  • Genotypes
ispartof: Nature Communications, Nov 2018, Vol.9, pp.1-12
description: Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of...
language: eng
source:
identifier: E-ISSN: 20411723 ; DOI: 10.1038/s41467-018-06014-6
fulltext: fulltext_linktorsrc
issn:
  • 20411723
  • 2041-1723
url: Link


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titleCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
creatorRousseau, Justine ; Twist, Joanna ; Ehresmann, Sophie ; Takaku, Motoki ; Venselaar, Hanka ; Rodan, Lance ; Nowak, Catherine ; Douglas, Jessica ; Swoboda, Kathryn ; Steeves, Marcie ; Sahai, Inderneel ; Stegmann, Alexander ; Wheeler, Patricia ; Willing, Marcia ; Fiala, Elise ; Kochhar, Aaina ; Gibson, William ; Cohen, Ana ; Agbahovbe, Ruky ; Innes
ispartofNature Communications, Nov 2018, Vol.9, pp.1-12
identifierE-ISSN: 20411723 ; DOI: 10.1038/s41467-018-06014-6
subjectSpeech ; Proteins ; Missense Mutation ; Children ; Gene Sequencing ; Genomes ; Mutation ; Language ; Phenotypes ; Disorders ; Three Dimensional Models ; Neurodevelopmental Disorders ; Disruption ; Speech ; Brain ; Remodeling ; Chromatin Remodeling ; Adenosine Triphosphatase ; Children ; Genotypes
descriptionChromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of...
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titleCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
authorRousseau, Justine ; Twist, Joanna ; Ehresmann, Sophie ; Takaku, Motoki ; Venselaar, Hanka ; Rodan, Lance ; Nowak, Catherine ; Douglas, Jessica ; Swoboda, Kathryn ; Steeves, Marcie ; Sahai, Inderneel ; Stegmann, Alexander ; Wheeler, Patricia ; Willing, Marcia ; Fiala, Elise ; Kochhar, Aaina ; Gibson,...
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atitleCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
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abstractChromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of...
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