Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum Ellen G Pfendner 1, 2, 3, Olivier M Vanakker 4, Sharon F Terry 2, Sophia Vourthis 2, Patricia E McAndrew 1, Monica R McClain 5, Sarah Fratta 2, Anna-Susan Marais 2, 7, Susan[…]
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