Article
Absence of Functional <b><i>LIN28B</i></b> Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty
1 Jan 2012
Abstract excerpt
AIM: To investigate LIN28B gene variants in children with idiopathic central precocious puberty (CPP). PATIENTS AND METHODS: We studied 178 Brazilian children with CPP (171 girls, 16.8% familial cases). A large multiethnic group (1,599 subjects; Multiethnic Cohort, MEC) was used as control. DNA analysis and biochemical in vitro studies were performed. RESULTS: A heterozygous LIN28B variant, p.H199R, was...
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