Novel Compound Heterozygous Mutations of LIG4 Gene in an Indian LIG4 Syndrome Patient with Severe Microcephaly: Case Report, In-silico Analysis and Systematic Review.
Amit SinghSabyasachi SenapatiInusha PanigrahiPreeti KhetarpalPublished in: Current pediatric reviews (2024)
The in-silico analysis of identified variants explains their effect on the structure and function of the LIG4 protein hence explaining the genotype-phenotype correlation.