Article
Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients.
British journal of haematology - 1 Sept 2003
Hamlin Naomi, Beck Konstanze, Bacchelli Barbara, Cianciulli Paolo, Pasquali-Ronchetti Ivonne, Le Saux Olivier
Abstract excerpt
A significant number of patients diagnosed with beta-thalassaemia develop clinical and histopathological manifestations similar to those of an inherited disorder called Pseudoxanthoma elasticum (PXE). The inherited PXE is caused by mutations in the ATP-binding cassette, subfamily C (CFTR/MRP), member 6 (ABCC6) gene and is characterized by mineralized elastic fibres in dermal, vascular and ocular tissues. As no...
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