CINCA syndrome
Definition:
References:
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[1]. Jérôme Feldmann, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002 Jul;71(1):198-203. [Content Brief]
[2]. Martina Finetti, et al. Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. Orphanet J Rare Dis. 2016 Dec 7;11(1):167. [Content Brief]