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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

✍ Scribed by Rutsch, Frank; Ruf, Nico; Vaingankar, Sucheta; Toliat, Mohammad R.; Suk, Anita; Höhne, Wolfgang; Schauer, Galen; Lehmann, Mandy; Roscioli, Tony; Schnabel, Dirk


Book ID
109918768
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
117 KB
Volume
34
Category
Article
ISSN
1061-4036

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The mutational spectrum of ENPP1 as aris
✍ Nico Ruf; Birgit Uhlenberg; Robert Terkeltaub; Peter Nürnberg; Frank Rutsch 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB

## Generalized arterial calcification of infancy (GACI ,) is characterized by calcification of the internal elastic lamina of large and medium-sized arteries and stenosis due to myointimal proliferation. Although survival to adulthood has been reported, most patients die within the first six months