A novel ABCC6 variant causative of pseudoxanthoma elasticum
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DOI: 10.1038/s41439-019-0062-x
Abstract: Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of ABCC6 revealed a novel… read more here.
Keywords: pseudoxanthoma; pseudoxanthoma elasticum; novel abcc6; abcc6 variant ... See more keywords