Paper Details

Paper Title

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

Paper Journal Title

Orphanet J Rare Dis

Paper Citation Count

Paper Publication Year

2016

Bio Mention

18, PLEKHG3, PTHS, Pitt-Hopkins syndrome, TCF4, TCF4 isoform, TCF4 mRNA, TCF4 transcripts, autosomal dominant intellectual disability, basic helix-loop-helix transcription factor, chromosomes 14, complex locus, cultured skin fibroblasts, del(18)(q21, derivative chromosome, dysmorphic features, fusion transcript, genes, intellectual disability, mRNA, multiple promoters, multiple transcripts, patients, peripheral blood, short TCF4 transcripts, transcripts

Mesh Descriptor

Author Name	Affiliation
Valerie Maduro	National Institutes of Health
Valerie Maduro	National Institutes of Health
Praveen F Cherukuri	National Institutes of Health
Christ??le du Souich	University of British Columbia
Christ??le du Souich	Child and Family Research Institute, University of British Columbia
David R Adams	National Institutes of Health
David R Adams	National Institutes of Health
Amanda E Links	National Institutes of Health
May Christine V Malicdan	National Institutes of Health
May Christine V Malicdan	National Institutes of Health
Christopher E Mason	Weill Cornell Medical College
Christopher E Mason	The Feil Family Brain and Mind Research Institute (BMRI)
Christopher E Mason	The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine
Christopher E Mason	Weill Cornell Medical College
Christopher E Mason	The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine
Christopher E Mason	The Feil Family Brain and Mind Research Institute (BMRI)
James C Mullikin	National Human Genome Research Institute, National Institutes of Health
James C Mullikin	National Human Genome Research Institute, National Institutes of Health
William A Gahl	National Institutes of Health
William A Gahl	National Institutes of Health
William A Gahl	National Institutes of Health
William A Gahl	National Institutes of Health
Camilo Toro	National Institutes of Health
Cornelius F Boerkoel	National Institutes of Health
Cornelius F Boerkoel	University of British Columbia
Cornelius F Boerkoel	Child and Family Research Institute, University of British Columbia
Cornelius F Boerkoel	National Institutes of Health
Cornelius F Boerkoel	University of British Columbia
Cornelius F Boerkoel	Child and Family Research Institute, University of British Columbia

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