Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

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 e...

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Detalles Bibliográficos
Autores principales: Wong, Wui‐Kwan, Balasubramaniam, Shanti, Wong, Rachel S. H., Graf, Nicole, Thorburn, David R., McFarland, Robert, Troedson, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626656/
https://www.ncbi.nlm.nih.gov/pubmed/36341169
http://dx.doi.org/10.1002/jmd2.12326

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626656/
https://www.ncbi.nlm.nih.gov/pubmed/36341169
http://dx.doi.org/10.1002/jmd2.12326

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