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A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357. Hum Mol Genet. 2019. PMID: 30329057 Free PMC article. No abstract available.
A cutaneous lymphoma mimicking superficial skin abscess in a child.
Kanik-Yuksek S, Ozkaya-Parlakay A, Gulhan B, Ozyoruk D, Tezer H. Kanik-Yuksek S, et al. J Pediatr. 2014 Sep;165(3):632-632.e1. doi: 10.1016/j.jpeds.2014.05.008. Epub 2014 Jun 13. J Pediatr. 2014. PMID: 24935801 No abstract available.
88 results