Article
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.
Journal of human genetics - 1 May 2016
Çağlayan Ahmet O, Tüysüz Beyhan, Coşkun Süleyman, Quon Jennifer, Harmancı Akdes S, Baranoski Jacob F, Baran Burçin, Erson-Omay E Zeynep, Henegariu Octavian, Mane Shrikant M, Bilgüvar Kaya, Yasuno Katsuhito, Günel Murat
Abstract excerpt
The fat mass and obesity associated (FTO) gene has previously been associated with a variety of diseases and conditions, notably obesity, acute coronary syndrome and metabolic syndrome. Reports describing mutations in FTO as well as in FTO animal models have further demonstrated a role for FTO in the development of the brain and other organs. Here, we describe a patient born of consanguineous union who presented...
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