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hrp0092rfc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis

Canton Ana , Steunou Virginie , Brito Vinicius , Laure Sobrier Marie , Montenegro Luciana , Bessa Danielle , Mendonca Berenice B , Netchine Irène , Latronico Ana Claudia

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

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ESPE Abstracts

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis

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