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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Vydáno v:Front Endocrinol (Lausanne)
Hlavní autoři: Fanis, Pavlos, Skordis, Nicos, Toumba, Meropi, Papaioannou, Nikoletta, Makris, Anestis, Kyriakou, Andreas, Neocleous, Vassos, Phylactou, Leonidas A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2019
Témata:
Endocrinology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6787840/
https://ncbi.nlm.nih.gov/pubmed/31636607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2019.00677
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