Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

Background: Central Precocious Puberty (CPP) is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. To date, mutations in the coding region of KISS1, KISS1R, PROKR2, DLK1, and MKRN3 genes have been reported as causative fo...

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Bibliographic Details
Main Authors: Pavlos Fanis, Nicos Skordis, Meropi Toumba, Nikoletta Papaioannou, Anestis Makris, Andreas Kyriakou, Vassos Neocleous, Leonidas A. Phylactou
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Endocrinology
Subjects:
MKRN3
central precocious puberty (CPP)
MKRN3 promoter region
MKRN3 5′-UTR
gene mutations
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2019.00677/full

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