Citation
Karuppiah, Thilakavathy and Arumugam, Manohar and Hwa, Ling King and Shankar, Aissvarya
(2024)
Integrative bioinformatics analysis and whole exome sequencing reveal differentially expressed genes and single nucleotide polymorphisms in Dupuytren’s contracture.
In: 15th International Symposium of Variants in the Genome, 12-15 May. 2024, Porto, Portugal. (pp. 50-51).
Abstract
Introduction: Dupuytren's Contracture (DC) is an
inherited connective tissue disorder causing
abnormal thickening of the palmar fascia, leading
to nodules and cords in the palm. DC is
suggested to be inherited in an autosomal
dominant manner with incomplete penetrance.
Although many studies have been conducted to
comprehend DC, to date the specific aetiology
remains unclear. Thus, the objective of the present
study is to identify the differentially expressed
genes (DEGs) and causal variants potentially
leading to the development of DC through
bioinformatics analysis and whole exome
sequencing (WES).
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