Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

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. Howeve...

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Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2012
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257960/
https://ncbi.nlm.nih.gov/pubmed/22209248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.020
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