Clinical, genetic and biochemical signatures of RBP4 -related ocular malformations.

Julie PlaisanciéJelena MartinovicBertrand ChesneauSandra WhalenDiana RodriguezSéverine Audebert-BellangerPauline MarzinSarah GrottoIsabelle PerthusRichard James HoltDorine A BaxNicola RaggeNicolas Chassaing

Published in: Journal of medical genetics (2023)

are associated with MAC of incomplete penetrance with maternal inheritance through a likely dominant-negative mechanism.

Keyphrases

genome wide
mitochondrial dna
copy number
birth weight
pregnancy outcomes
dna methylation
gene expression
drug induced