21 March 2024>: Articles
Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant
Challenging differential diagnosis, Rare disease, Rare coexistence of disease or pathology
Zhaoxia Zhang A , Dong Liu A* , Zhangbin Yu D , Zhihui Xiao A , Keying Zhou E , Bo Li ADOI: 10.12659/AJCR.943398
Am J Case Rep 2024; 25:e943398
Figure 1. Whole-exome sequencing analysis of the infant. (A) Reference sequence: This segment illustrates the reference sequence representing the normal genomic configuration. (B) Sequencing results: Results of the sequencing analysis. The identified homozygous variation, NM_001005741.2: c.1448T>C (p.Leu483Pro), is emphasized, indicating the substitution of the 1448th base in the coding region (marked by the arrow). This alteration leads to the change from T to C, consequently modifying the 483th amino acid from leucine to proline.