Pathogenic and low frequency variants in children with central precocious puberty

Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Barbara Gorka, Ioanna Kousiappa, George Tanteles, Michalis Iasonides, Nicolas Nicolaides, Yiolanda Christou, Kyriaki Michailidou, Stella Nicolaou, Savvas Papacostas, Athanasios Christoforides, Andreas Kyriakou, Dimitrios Vlachakis, Nicos Skordis & Leonidas Phylactou
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. CPP is usually idiopathic and is disproportionally observed in girls compared to boys. Currently, only few genetic determinants of children with CPP have been described and the role they exert on the development of the disorder. In this original study rare variants in MKRN3, DLK1, KISS1, KISS1R...
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