TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

Abstract Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To date, only 100 cases of TRMA have been reported in the world. Case presen...

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Bibliographic Details
Main Authors: Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang, Xiumin Wang
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Pediatrics
Subjects:
Thiamine-responsive megaloblastic anemia
SLC19A2 gene
Novel mutation
Diabetes
Deafness
Online Access:http://link.springer.com/article/10.1186/s12887-019-1608-2

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