Article
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
American journal of human genetics - 13 Jan 2012
Nitschke Yvonne, Baujat Geneviève, Botschen Ulrike, Wittkampf Tanja, du Moulin Marcel, Stella Jacqueline, Le Merrer Martine, Guest Geneviève, Lambot Karen, Tazarourte-Pinturier Marie-Frederique, Chassaing Nicolas, Roche Olivier, Feenstra Ilse, Loechner Karen, Deshpande Charu, Garber Samuel J, Chikarmane Rashmi, Steinmann Beat, Shahinyan Tatevik, Martorell Loreto, Davies Justin, Smith Wendy E, Kahler Stephen G, McCulloch Mignon, Wraige Elizabeth, Loidi Lourdes, Höhne Wolfgang, Martin Ludovic, Hadj-Rabia Smaïl, Terkeltaub Robert, Rutsch Frank
Abstract excerpt
Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that GACI and PXE are in...
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