Article
MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.
Journal of endocrinological investigation - 1 Jun 2024
Aiello F, Palumbo S, Cirillo G, Tornese G, Fava D, Wasniewska M, Faienza M F, Bozzola M, Luongo C, Festa A, Miraglia Del Giudice E, Grandone A
Abstract excerpt
PURPOSE: MKNR3 is a paternally expressed gene whose mutations are the main cause of central precocious puberty (CPP). Protein circulating levels can be easily measured, as demonstrated in idiopathic CPP and healthy controls. No data are available for patients harboring an MKRN3 mutation. Our aim was to perform MKRN3 mutation screening and to investigate if circulating protein levels could be a screening tool to...
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