Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.
Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O'Rahilly S, Aiken CE, Coll AP, Ma M, Rimmington D, Yeo GSH, Dunkel L.
Howard SR, et al.
J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659. doi: 10.1210/jc.2017-02147.
J Clin Endocrinol Metab. 2018.
PMID: 29161441
Free PMC article.
Two FTO variants, found in 14 affected individuals from three families, were also associated with leanness in these patients with DP. One variant (p.Leu44Val) demonstrated altered demethylation activity of the mutant protein in vitro. Fto+/- mice displayed a significantly …
Two FTO variants, found in 14 affected individuals from three families, were also associated with leanness in these patients with DP. One va …