Article
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2021
Ferreira Carlos R, Hackbarth Mary E, Ziegler Shira G, Pan Kristen S, Roberts Mary S, Rosing Douglas R, Whelpley Margaret S, Bryant Joy C, Macnamara Ellen F, Wang Sisi, Müller Kerstin, Hartley Iris R, Chew Emily Y, Corden Timothy E, Jacobsen Christina M, Holm Ingrid A, Rutsch Frank, Dikoglu Esra, Chen Marcus Y, Mughal M Zulf, Levine Michael A, Gafni Rachel I, Gahl William A
Abstract excerpt
PURPOSE: Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6, a membrane transporter. The natural history of GACI survivors has not been established in a prospective fashion. METHODS: We performed deep phenotyping of 20 GACI...
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