Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty

Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis in the absence of identifiable central lesions. Mutations of the makorin RING finger 3 (MKRN3) gene are associated with iCPP. We aimed to assess the frequency of MKRN3 mutations in...

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Hlavní autoři:	Dominique Simon, Ibrahima Ba, Nancy Mekhail, Emmanuel Écosse, Anne Paulsen, Delphine Zénaty, Muriel Houang, M. Jesuran Perelroizen, Gianpaolo De Filippo, Mariacarolina Salerno, G. Simonin, Rachel Reynaud, Jean‐Claude Carel, Juliane Léger, Nicolás de Roux
Médium:	Artigo
Jazyk:	angličtina
Vydáno:	2015
On-line přístup:	https://doi.org/10.1530/eje-15-0488 https://eje.bioscientifica.com/downloadpdf/journals/eje/174/1/1.pdf
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https://doi.org/10.1530/eje-15-0488
https://eje.bioscientifica.com/downloadpdf/journals/eje/174/1/1.pdf

Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty

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