Werner syndrome
Autoszomális recesszív
An adult-onset progeroid syndrome caused by biallelic variants in WRN, with early cataracts, skin changes, diabetes, premature atherosclerosis and increased risk of sarcoma, melanoma and thyroid cancer.
Mit változtat a diagnózis
Diagnosis supports surveillance for diabetes, cardiovascular disease and cancer.
Vizsgált gének
Más néven
adult premature aging syndrome; adult progeria; Werner's syndrome; WRN; WS
