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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 A

DOI: 10.12659/AJCR.943398

Am J Case Rep 2024; 25:e943398

Figure 3. Whole-exome sequencing of the infant’s mother. (A) Reference sequence: This segment illustrates the reference sequence representing the normal genomic configuration. (B) Sequencing results: Results of the sequencing analysis. The figure illustrates a heterozygous variation on the GBA1 (marked by the arrow), detected at the same locus as presented in Figure 1.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923