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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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| Publicado no: | Neuroendocrinology |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | 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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