Uwibambe, E., Yalcouyé, A., Aboagye, E. T., Xhakaza, L., Popel, K., Dukuze, N., Bharadwaj, T., de Kock, C., Schrauwen, I., Leal, S. M., Mutesa, L., & Wonkam, A. (2025). Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. BMC Medical Genomics, 18(1). https://doi.org/10.1186/s12920-025-02153-0
Subjects:
Regulation of Chromatin Structure and Function
(OpenAlex Topic)
Chromatin Remodeling in Cancer and Development
(OpenAlex Topic)
RNA Methylation and Modification in Gene Expression
(OpenAlex Topic)
Exome Sequencing
(MeSH)
De Lange Syndrome
(MeSH)
Homozygote
(MeSH)
Publication Type:
Article
Unique ID:
10.1186/s12920-025-02153-0
PMID:
Journal:
Publication Date:
Data Source:
PubMed