Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
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Hoboken, USA: John Wiley & Sons, Inc
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Language
English
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Contents
The C‐terminal binding protein 1 (CTBP1) functions as a transcriptional corepressor in vertebrates and has been identified to have critical roles in nervous system growth and development. Pathogenic variants in the CTBP1 gene has been shown to cause hypotonia, ataxia, developmental delay and tooth enamel defect syndrome (HADDTS). There have only be...
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Full title
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
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TN_cdi_doaj_primary_oai_doaj_org_article_df0e1594280e47c0a558ea4c173944ec
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_df0e1594280e47c0a558ea4c173944ec
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ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12326
