TY  -  
T1  - A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability 
SN  -  /  
UR  - http://hdl.handle.net/10138/325654 
T3  -  
A1  - Loid, Petra; Mäkitie, Riikka; Costantini, Alice; Viljakainen, Heli; Pekkinen, Minna; Mäkitie, Outi 
A2  -  
PB  -  
Y1  - 2018 
LA  - eng 
AB  - The genetic background of severe early-onset obesity is still incompletely understood. Deletions at 2p25.3 associate with early-onset obesity and variable intellectual disability. Myelin-transcriptor-factor-1-like (MYT1L) gene in this locus has been proposed a candidate gene for obesity. We report on a 13-year-old boy presenting with overweight already at 1 year of age (body mass index [BMI] Z-score +2.3) and obesity at 2 years of age (BMI Z-score +3.8). The patient had hyperphagia and delayed n... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - hyperphagia; infancy-onset obesity; MYT1L; GENE; 3111 Biomedicine 
N1  -   
PP  -  
ER  -