Familial congenital heart disease caused by a frameshift variant in glyoxylate reductase 1 homolog (GLYR1)
QJM
.
2024 Apr 12;117(4):297-299.
doi: 10.1093/qjmed/hcad281.
Authors
C Liang
1
,
R Xiang
2
3
,
S-H Chang
3
,
M-W Liu
3
4
,
J-Y Jin
2
3
5
Affiliations
1
Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, China.
2
Department of Hand and Microsurgery, Xiangya Hospital, Central South University, Changsha 410000, China.
3
School of Life Sciences, Central South University, Changsha 410000, China.
4
College of Basic Medical, Xinjiang Medical University, Urumqi 830000, China.
5
National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410000, China.
PMID:
38070486
DOI:
10.1093/qjmed/hcad281
No abstract available
Publication types
Case Reports
MeSH terms
Alcohol Oxidoreductases* / genetics
Frameshift Mutation
Heart Defects, Congenital* / genetics
Humans
Substances
Alcohol Oxidoreductases
glyoxylate reductase
Grants and funding
81970403/National Natural Science Foundation of China
B2023407/Medical Science and Technology Research Foundation of Guangdong Province
2022sk2034/Key Research and Development Program of Hunan Province
2022Q10/Youth Science Foundation of Xiangya Hospital