Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.

Miriam ElbrachtFlorian KraftMatthias BegemannPetra HolschbachMichael MullIldiko M KabatBritta MüllerMartin HäuslerIngo KurthUte Hehr

Published in: Molecular genetics & genomic medicine (2018)

Our findings may suggest a broader spectrum of NEDD4L-associated phenotypes, including severe prenatal neurodevelopmental manifestations, which might represent yet another genetic form of fetal hypokinesia with flexion contractures.

Keyphrases

early onset
pregnant women
genome wide
copy number
dna methylation
drug induced