Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study
Ana Pinheiro Machado Canton, Flávia Rezende Tinano, Leonardo Guasti, Luciana Ribeiro Montenegro, Fiona Ryan, Deborah Shears, Maria Edna de Melo, Larissa Garcia Gomes, Mariana Piana, Raja Brauner, Rafael Espino-Aguilar, Arancha Escribano-Muñoz, Alyssa Paganoni, Jordan E. Read, Márta Korbonits, Carlos Eduardo Seraphim, Silvia Souza da Costa, Ana Cristina Victorino Krepischi, Alexander A.L. Jorge, Alessia David, Lena R Kaisinger, Ken K. Ong, John R. B. Perry, Ana Paula Abreu, Ursula B. Kaiser, Jesús Argente, Berenice B. Mendonça, Vinícius Nahime Brito, Sasha Howard, Ana Cláudia Latronico
Topics & Concepts
MECP2Precocious pubertyRett syndromeMedicineCentral precocious pubertySanger sequencingInternal medicineCohortEndocrinologyPediatricsBioinformaticsPhenotypeGeneticsGeneMutationBiologyHormoneGenetics and Neurodevelopmental DisordersHypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities