MKRN3 and KISS1R mutations in precocious and early puberty.

Sara PaganiValeria CalcaterraGloria AcquafreddaChiara MontalbanoElena BozzolaPietro FerraraManuela GasparriAlberto VillaniMauro Bozzola

Published in: Italian journal of pediatrics (2020)

In conclusion, we identified sequence variations of the KISS1R and MKRN3 genes, two of the most frequent genetic causes of ICPP. Our results suggest that these variants might be inducible factors in the pathogenesis of CPP.

Keyphrases

genome wide
copy number
dna methylation
bioinformatics analysis
genome wide identification
gene expression
transcription factor