Article

NBAS gene-deficient disease complicated with autoimmune thyroiditis and autoimmune thrombocytopenia: a case report and literature review

2024-03-09

Abstract excerpt

<h4>Background: </h4> Previous studies have reported that NBAS gene-deficient diseases are caused by mutations in the NBAS gene. NBAS gene mutations could lead to SOPH syndrome, which clinically manifests as short stature, optic atrophy, and PH cells visible on peripheral blood smears, and can lead to recurrent liver failure induced by fever in children too. The clinical phenotypes fall into three categories: SOPH...

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Literature Corpus work: d7aa3b79-720b-50c8-a7b1-36d1f34fee2a
DOI: 10.22541/au.171002670.05808946/v1

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