Article
[Pseudodominant inheritance of pseudoxanthoma elasticum].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Aug 2015
Charbel Issa P, Gliem M, Holz F G, Knabbe C, Hendig D
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a system disease due to mutations in the ABCC6 gene with characteristic alterations in the eyes, the skin and the cardiovascular system. Herein, we report on two families with PXE in two subsequent generations due to genetically confirmed pseudodominance. A literature review revealed that PXE due to mutations in ABCC6 follows an autosomal recessive inheritance and that disease...
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