A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings
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چکیده
منابع مشابه
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome
Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. Since it is rare and complex, it can tak...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2021
ISSN: 1664-3224
DOI: 10.3389/fimmu.2020.599564