Pseudodominante Vererbung von Pseudoxanthoma elasticum
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s00347-014-3231-9.pdf
Reference15 articles.
1. Bergen AA (2006) Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. J Investig Dermatol 126:704–705
2. Campens L, Vanakker OM, Trachet B et al (2013) Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol 33:2646–2652
3. Chassaing N, Martin L, Calvas P et al (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42:881–892
4. Chassaing N, Martin L, Mazereeuw J et al (2004) Novel ABCC6 mutations in pseudoxanthoma elasticum. J Investig Dermatol 122:608–613
5. De Zaeytijd J, Vanakker OM, Coucke PJ et al (2010) Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum. Br J Ophthalmol 94:479–486
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3. Retinal findings in carriers of monoallelic ABCC6 mutations;British Journal of Ophthalmology;2019-03-28
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