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© 2015, Springer-Verlag Berlin Heidelberg. 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 manifestation in two subsequent generations is due to pseudodominance.

Original publication

DOI

10.1007/s00347-014-3231-9

Type

Journal article

Journal

Ophthalmologe

Publication Date

18/08/2015

Volume

112

Pages

686 - 690