Associated Papers
Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.
Pantea CL et al.
International Journal of Molecular Sciences, 2026
Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.
Fekadu-Siebald J et al.
Blood Advances, 2025
JAGN1 mutation with distinct clinical features; two case reports and literature review.
Hojabri M et al.
Bmc Pediatrics, 2023
Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review.
Thomas S et al.
Frontiers in Pediatrics, 2023
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
Çipe FE et al.
The Turkish Journal of Pediatrics, 2020
HAX1 mutation in an infant with severe congenital neutropenia.
Eghbali A et al.
The Turkish Journal of Pediatrics, 0
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