Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
David B. Beck, Ana Petracovici, Chongsheng He, Hannah Warren Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie‐Christine Nouguès, , Jill A. Fahrner
This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.
bioRxiv · Jul 31, 2019 · PreprintGenetics