Central Retinal Artery Occlusion in a Child with ADA2 deficiency: A Case report

Published: 4 January 2024| Version 1 | DOI: 10.17632/ncvvgnwhgr.1
Contributor:
mohammed abdulrazzak

Description

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).

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Genetics

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