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Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum

✍ Scribed by L Martin; N Chassaing; D Delaite; E Estève; F Maître; M Le Bert

Book ID
111094849
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
223 KB
Volume
21
Category
Article
ISSN
0926-9959

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Mutational analysis of the ABCC6 gene an
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)
✍ Veronika Schulz; Doris Hendig; Maja Henjakovic; Christiane Szliska; Knut Kleesie 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 424 KB

Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by calcification of elastic fibers in dermal, ocular, and cardiovascular tissues. Recently, ABCC6 mutations were identified as causing PXE. In this follow-up study we report the investigation of 61German PXE patients from 53 families

Pseudoxanthoma elasticum: Point mutation
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
✍ Ilaria Meloni; Pietro Rubegni; Giovambattista De Aloe; Mirella Bruttini; Elisa P 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB

Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. PXE is transmitted either as an autosomal dominant or