Article
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Frontiers in endocrinology - 1 Jan 2021
Neocleous Vassos, Fanis Pavlos, Toumba Meropi, Gorka Barbara, Kousiappa Ioanna, Tanteles George A, Iasonides Michalis, Nicolaides Nicolas C, Christou Yiolanda P, Michailidou Kyriaki, Nicolaou Stella, Papacostas Savvas S, Christoforidis Athanasios, Kyriakou Andreas, Vlachakis Dimitrios, Skordis Nicos, Phylactou Leonidas A
Abstract excerpt
Background: Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height. Currently, few genetic determinants of children with CPP have been described. In this translational study, rare sequence variants in MKRN3, DLK1, KISS1, and KISS1R genes were investigated in patients with CPP. Methods:...
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