article_metadata: Yanjun Wang Ling Hang Weihua Shou Cuifen Li Fangling Dong Xingxing Feng Ruohong Jin Bin Li Shufang Xiao
article_metadata: 10.3389/fped.2024.1363728
article_metadata: Front Pediatr
article_metadata: 2024 Apr 25:12:1363728.
article_metadata: rrm2b disease etiology disease spectrum mitochondrial dna depletion syndrome whole-exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38737634/
article_metadata: Case Reports
article_metadata: PMC11084280
article_metadata: 38737634
article_metadata: Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology
article_metadata: 2024