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SUN-089 Novel Genetic and Biochemical Findings of DLK1 Deficiency in Children with Central Precocious Puberty - a Collaborative Brazilian-Spanish Study
Background: Delta-like 1 homolog (DLK1), also known as pre-adipocyte factor 1 (Pref-1), is part of the Notch signaling pathway that controls many developmental processes. Loss-of-function mutations of DLK1 have been identified in children with central precocious puberty (CPP), as well as in women wh...
Autores principales: | Montenegro, Luciana Ribeiro, Labarta, José, Piovesan, Maiara, Canton, Ana Pinheiro Machado, Collado, Raquel Corripio, Soriano-Guillén, Leandro, Barrios, Vicente, Seraphim, Carlos Eduardo, Brito, Vinicius Nahime, Latronico, Ana Claudia, Argente, Jesus |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209333/ http://dx.doi.org/10.1210/jendso/bvaa046.1471 |
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