Journals / Turkish Journal of Pediatrics / 2016 / Cilt: 58 - Sayı: 4
Two newborn babies with generalized arterial calcification of infancy, two new mutations
- Pages
- 419–423
- DOI
- —
Özet
Yapıcıoğlu-Yıldızdaş H, Özbarlas N, Erdem S, Yılmaz MB, Özlü F, Büyükkurt S, Soyupak S, Güllü U, Karaer K. Two newborn babies with generalized arterial calcification of infancy, two new mutations. Turk J Pediatr 2016; 58: 419-423.Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life