Article
Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2.
The Turkish journal of pediatrics - 1 Jan 2019
Çakan Mustafa, Aktay-Ayaz Nuray, Karadağ Şerife Gül, Tahir-Turanlı Eda, Stafstrom Kelsey, Bainter Wayne, Geha Raif S, Chou Janet
Abstract excerpt
Çakan M, Aktay-Ayaz N, Karadağ ŞG, Tahir-Turanlı E, Stafstrom K, Bainter W, Geha RS, Chou J. Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turk J Pediatr 2019; 61: 413-417. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by mutations in CECR1 (cat eye syndrome chromosome region, canditate 1)...
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