Do you know this syndrome? Werner syndrome
Küçük Resim Yok
Tarih
2017
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
SOC BRASILEIRA DERMATOLOGIA
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life. Since the patients usually die by the age of 40-50 years related to malignant neoplasms or atherosclerotic complications, they should be closely followed and treated for complications.
Açıklama
Anahtar Kelimeler
Leg ulcer, Progeria, Scleroderma, localized, Werner syndrome
Kaynak
ANAIS BRASILEIROS DE DERMATOLOGIA
WoS Q Değeri
Q4
Scopus Q Değeri
Q2
Cilt
92
Sayı
2