Werner syndrome
Autozomálně recesivní
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.
Co se diagnózou změní
Diagnosis supports surveillance for diabetes, cardiovascular disease and cancer.
Analyzované geny
Známé také jako
adult premature aging syndrome; adult progeria; Werner's syndrome; WRN; WS
