Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.

Gerhard BinderJulian ZieglerRoland SchweizerWisam HabhabTobias B HaackTilman HeinrichThomas Eggermann

Published in: Clinical epigenetics (2020)

In comparison with loss-of-function genomic IGF2 mutations, CDKN1C gain-of-function mutations are a less frequent cause of SRS and seem to affect a cluster of few amino acids.

Keyphrases

amino acid
gold nanoparticles
case report
copy number
gene expression
cell proliferation
signaling pathway
dna methylation
pi k akt
clinical evaluation