Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

CONTEXT: Loss-of-function mutations in the coding region of MKRN3, a maternally imprinted gene at chromosome 15q11.2, are a common cause of familial central precocious puberty (CPP). Whether MKRN3 alterations in regulatory regions can cause CPP has not been explored to date. We aimed to investigate...

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Détails bibliographiques
Publié dans:Neuroendocrinology
Auteurs principaux: Macedo, Delanie B., França, Monica M., Montenegro, Luciana R., Cunha-Silva, Marina, Best, Danielle S., Abreu, Ana Paula, Kaiser, Ursula B., Mendonca, Berenice B., Jorge, Alexander A.L., Brito, Vinicius N., Latronico, Ana Claudia
Format: Artigo
Langue:Inglês
Publié: 2018
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6363361/
https://ncbi.nlm.nih.gov/pubmed/29763903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000490059
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