A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review
Biallelic variants in the neuroblastoma amplified sequence (NBAS) gene have been associated with short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome, infantile liver failure syndrome type 2 (ILFS-2), and an increasingly broad spectrum of clinical phenotypes. However, cases presenti...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Frontiers Media S.A.
2026-06-01
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| سلاسل: | Frontiers in Immunology |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.frontiersin.org/articles/10.3389/fimmu.2026.1829362/full |
| الوسوم: |
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