Article
Two newborn babies with generalized arterial calcification of infancy, two new mutations.
The Turkish journal of pediatrics - 1 Jan 2016
Yapıcıoğlu-Yıldızdaş Hacer, Özbarlas Nazan, Erdem Sevcan, Yılmaz Mehmet Bertan, Özlü Ferda, Büyükkurt Selim, Soyupak Süreyya, Güllü Utku, Karaer Kadri
Abstract excerpt
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.
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