A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant
Gene
.
2024 Jul 1:914:148379.
doi: 10.1016/j.gene.2024.148379.
Epub 2024 Mar 13.
Authors
Dandan Xiang
1
,
Kangkang Xu
1
,
Mei Chen
1
,
Zhongman Zhang
1
,
Ningning Sun
1
,
Yuying Qi
1
,
Jie Lu
1
,
Chunli Wang
2
,
Shiwei Yang
3
Affiliations
1
Department of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
2
Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
3
Department of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China. Electronic address: jrdoctoryang@163.com.
PMID:
38490507
DOI:
10.1016/j.gene.2024.148379
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Acidosis, Lactic* / genetics
Anemia / genetics
Asian People / genetics
Cardiomyopathy, Hypertrophic* / genetics
China
East Asian People
Female
Homozygote*
Humans
Infant
Male
Mutation