Article
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
The Journal of investigative dermatology - 1 Mar 2014
Li Qiaoli, Brodsky Jill L, Conlin Laura K, Pawel Bruce, Glatz Andrew C, Gafni Rachel I, Schurgers Leon, Uitto Jouni, Hakonarson Hakon, Deardorff Matthew A, Levine Michael A
Abstract excerpt
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by congenital calcification of large- and medium-sized arteries, associated with early myocardial infarction, heart failure, and stroke, and premature death. Most cases of GACI are caused by mutations in the ENPP1 gene. We first studied two siblings with GACI from a non-consanguineous family without mutations in...
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