An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia
Makaleler > Tam Makale · 2016
Yazarlar: Ezgi ULUSOY, Neslihan KARACA, Samim ÖZEN, Yeşim ERTAN, Ruhsar Damla GÖKŞEN, Güzide AKSU, Şükran DARCAN, Necil KÜTÜKÇÜLER
TURKISH JOURNAL OF PEDIATRICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2016, cilt 58, ss 442-442
DOI: 10.24953/turkjped.2016.04.018
Özet
Ataxia-telangiectasia (A-T) is a rare autosomal recessive, multisystem, neurodegenerative disorder, characterized by oculocutaneous telangiectasias, variable immunodeficiency and progressive neurological impairment. Definitive diagnosis is made by revealing a disease causing mutation on ATM gene. Missense mutations and polymorphisms of ATM gene can play a role in the development of thyroid papillary carcinoma.