𝔖 Bobbio Scriptorium
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Pseudoxanthoma elasticum: A review of neurological complications

✍ Scribed by Dr. Aleem Iqbal; Milton Alter; Seungho H. Lee


Publisher
John Wiley and Sons
Year
1978
Tongue
English
Weight
305 KB
Volume
4
Category
Article
ISSN
0364-5134

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πŸ“œ SIMILAR VOLUMES


Proposal for updating the pseudoxanthoma
✍ Astrid S. Plomp; Johan Toonstra; Arthur A.B. Bergen; Marijke R. van Dijk; Paulus πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 351 KB

## Abstract Pseudoxanthoma elasticum (PXE) is a systemic disorder affecting elastic tissues most markedly in skin, retina, and blood vessels. It is caused by mutations in the __ABCC6__ gene and is transmitted in an autosomal recessive fashion. In 1994 a new classification system for PXE was publish

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## Abstract A patient is presented with severe cutis laxa of the abdomen. Molecular investigations, including sequencing of the __fibulin‐5__ and __elastin__ gene, failed to endorse the diagnosis of inherited cutis laxa. Ultrasonographical discovery of renal calcifications during his general work‐u