نتایج جستجو برای: pseudoxanthoma elasticum
تعداد نتایج: 610 فیلتر نتایج به سال:
Pseudoxanthoma elasticum (PXE) is a genetic multisystemic disorder affecting the skin, eyes and cardiovascular system. Basic fundoscopic findings in PXE result from Bruch's membrane involvement. The most important fundoscopic findings are angioid streaks. Other significant ocular findings are peau d'orange appearance, optic disc drusen, pattern dystrophy-like macular appearance, comet lesions, ...
A young woman patient had early and extensive familial Mediterranean fever (FMF)-related amyloidosis and pseudoxanthoma elasticum (PXE). She had the novel G1042S mutation in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, responsible for PXE, and the mutation M694I in MEFV, the FMF gene. Both mutations were homozygous, in agreement with consanguinity in the parents. ABCC6 deficiency...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید