IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report
BackgroundIARS2 (EC6.1.5) is a mitochondrial isoleucine-tRNA synthetase. Despite the fact that only fewer than 30 patients have been reported in the literature, mitochondrial disorders caused by pathogenic variants in the IARS2 gene (OMIM: 616007) have a very broad and variable clinical phenotype sp...
Saved in:
Main Authors: | Yan Gong (Author), Xiao Ping Lan (Author), Sheng Guo (Author) |
---|---|
Format: | Book |
Published: |
Frontiers Media S.A.,
2023-01-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Sideroblastic anemia
by: P Bhandari, et al.
Published: (2016) -
Sideroblastic anemia: An underdiagnosed rare disease
by: Swetha Palla, et al.
Published: (2022) -
Expanding the clinical phenotype of IARS2-related mitochondrial disease
by: Barbara Vona, et al.
Published: (2018) -
Congenital sideroblastic anemia: A report of two cases
by: Gupta Sanjeev, et al.
Published: (2009) -
Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis
by: Muhammad Matloob Alam, et al.
Published: (2022)