JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.11, no.4, pp.341-349, 2019 (SCI-Expanded)
Article / Article
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
Early, onset, severe obesity, novel mutations, MELANOCORTIN-4 RECEPTOR MUTATIONS, HOMOZYGOUS MISSENSE MUTATION, CELL-SURFACE EXPRESSION, SIM1 GENE, PROOPIOMELANOCORTIN POMC, STABILITY CHANGES, DEFICIENCY, VARIANTS, PROTEIN, MC4R
Bursa Uludag University Affiliated:
Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity.