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hrp0082fc5.2 | Neuroendocrinology | ESPE2014

Mutations in the Maternally Imprinted Gene MKRN3 are a Frequent Cause of Familial Central Precocious Puberty

Mekhail Nancy , Ba Ibrahima , Simon Dominique , Paulsen Anne , Zenaty Delphine , Houang Muriel , Jesuran-Perelroizan Monique , de Filippo Gianpaolo , Salerno Maria Carolina , Carel Jean-Claude , Leger Juliane , de Roux Nicolas

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotypephenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...

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ESPE Abstracts

Mutations in the Maternally Imprinted Gene MKRN3 are a Frequent Cause of Familial Central Precocious Puberty

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