Absence of Functional <b><i>LIN28B</i></b> Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty

A. P. Silveira-Neto, Letícia Ferro Leal, Amy B. Emerman, Katherine D. Henderson, Elena Piskounova, Brian E. Henderson, Richard I. Gregory, Letícia Ferreira Gontijo Silveira, Joel N. Hirschhorn, Thutrang Nguyen,

Hormone Research in Paediatrics · 2012 · 34 citations · 22 references

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Abstract

In vitro studies revealed that the rare LIN28B p.H199R variant identified in a girl with CPP does not affect the Lin28B function in the regulation of let-7 expression. Although LIN28B SNPs were associated with normal pubertal timing, rare variations in this gene do not seem to be commonly involved in the molecular pathogenesis of CPP.

References

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