Central Retinal Artery Occlusion in a Child with ADA2 deficiency: A Case report
收藏Mendeley Data2026-04-18 收录
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Whole-exome sequencing for suspected monogenic inherited autoinflammatory disorders. A homozygous A->G substitution at chr22:17687970 confirms the diagnosis of DADA2 (germline mutation of the ADA2/ CECR1 gene c.533T>C leading to p.Phe178Ser).
创建时间：
2024-01-04
