21 March 2024 : Case report
Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant
Challenging differential diagnosis, Rare disease, Rare coexistence of disease or pathology
Zhaoxia Zhang1ADE, Dong Liu1ABCDEF*, Zhangbin Yu1DF, Zhihui Xiao1A, Keying Zhou1EF, Bo Li1ADDOI: 10.12659/AJCR.943398
Am J Case Rep 2024; 25:e943398
Figure 2. Whole-exome sequencing of the infant’s father. (A) Reference sequence: This segment illustrates the reference sequence representing the normal genomic configuration. (B) Sequencing results: Results of the sequencing analysis. The figure depicts a heterozygous variation on the GBA1 (marked by the arrow), observed at the same locus as indicated in Figure 1.