Article
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.
European journal of endocrinology - 1 Jan 2016
Simon Dominique, Ba Ibrahima, Mekhail Nancy, Ecosse Emmanuel, Paulsen Anne, Zenaty Delphine, Houang Muriel, Jesuran Perelroizen Monique, de Filippo Gian-Paolo, Salerno Mariacarolina, Simonin Gilbert, Reynaud Rachel, Carel Jean-Claude, Léger Juliane, de Roux Nicolas
Abstract excerpt
CONTEXT AND OBJECTIVE: 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 iCPP and to compare the phenotypes of patients with and without MKRN3 mutations. DESIGN: An...
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