SUN-090 Investigation of Imprinting Defects in MKRN3 and DLK1 in Children with Idiopathic Central Precocious Puberty Through Specific DNA Methylation Analysis

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 affecting mainly the coding region of two paternally expressed imprinted genes: Makorin r...

詳細記述

保存先:
書誌詳細
出版年:J Endocr Soc
主要な著者: Canton, Ana Pinheiro-Machado, Steunou, Virginie, Sobrier, Marie-Laure, Montenegro, Luciana Ribeiro, Bessa, Danielle de Souza, Gomes, Larissa Garcia, Jorge, Alexander Augusto Lima, Mendonca, Berenice Bilharinho, Brito, Vinicius Nahime, Netchine, Irene, Latronico, Ana Claudia
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
Pediatric Endocrinology
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209741/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.847
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