: Reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6–/–).
Schuurman et al., "Mutations in ABCC6 cause pseudoxanthoma elasticum
," Nature Genetics, vol.
(PXE) is a systemic disease and a heritable disorder of the connective tissue in which the primary defect appears to be the production of abnormal elastic fibres with secondary calcification.1
: a clinical, histopathological and molecular update.
Evidence for a founder effect for pseudoxanthoma elasticum
in the Afrikaner population of South Africa.
As she pursued treatment in this country and abroad, she became involved in creating a chapter of the National Association for Pseudoxanthoma Elasticum
, a nonprofit support group for patients and their families.
Mum-of-one Dawn Thomas, aged 44, of Branston, Burton-on-Trent, Staffordshire, has lost most of the sight in her left eye while her other one is at risk because she suffers from Pseudoxanthoma Elasticum
(PXE), a hereditary disorder.
is an autosomally inherited disorder associated with the accumulation of mineralized and fragmented elastic fibers in the skin, Bruch's membrane in the retina, and vessel walls.
Morphometric analysis of elastic skin fibers from patients with cutis laxa, anetoderma, pseudoxanthoma elasticum
and Buschke-Ollendorff and Williams Beuren syndromes.
[(PXE).sup.3] (Groenblad-Strandberg syndrome, Online Mendelian Inheritance in Man 177850 and 264800) is an autosomally inherited disorder that affects the skin, eyes, and cardiovascular system (1, 2) and is characterized by extensive connective tissue alterations, including progressive calcification and fragmentation of elastic fibers, and massive accumulation of proteoglycans in the extracellular matrix.
When Terry's two children were diagnosed in 1994 with pseudoxanthoma elasticum
(PXE), a rare genetic condition that causes vision loss, premature wrinkling, and cardiovascular and gastrointestinal disease, she felt powerless.
), which fights a rare disease that affects a member of his family, are among the medical charities that Rothman and Harper support.