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Page 1
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Alabbas F, Alanzi T, Alrasheed A, Essa M, Elyamany G, Asiri A, Almutairi S, Al-Mayouf S, Alenazi A, Alsafadi D, Ballourah W, Albalawi N, Hanafy E, Al-Hebshi A, Alrashidi S, Albatniji F, Alfaraidi H, Ali TB, Al Qwaiee M, AlHilali M, Aldeeb H, Alhaidey A, Aljasem H, Althubaiti S, Alsultan A. Alabbas F, et al. Among authors: alhilali m. J Clin Immunol. 2023 Feb;43(2):338-349. doi: 10.1007/s10875-022-01364-9. Epub 2022 Oct 14. J Clin Immunol. 2023. PMID: 36239861
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6. Clin Genet. 2022. PMID: 34708404
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