Pulmonary alveolar proteinosis and anemia may be associated with poor prognosis in patients with IARS1 variants
Abstract Background Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) is a rare disease caused by compound heterozygous variations in the isoleucyl-tRNA synthetase 1 (IARS1) gene. To date, only a few cases have been reported and there has been no comprehensiv...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-07-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03885-z |
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