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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Endocr Soc
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2020
Pynciau:
Pediatric Endocrinology
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209333/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1471
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