A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.

Suzanne ChartierCaroline AlbyLucile BoutaudSophie ThomasNadia ElkhartoufiJelena MartinovicJosseline KaplanAlexandra BenachiDidier LacombePascale SonigoSéverine DrunatMichel VekemansJoël AgenorFérechté Encha RazaviTania Attie-Bitach

Published in: Birth defects research (2018)

The present study confirms the involvement of RTTN gene mutations in microcephaly with simplified gyral pattern and describes the observed abnormal neuropathological findings.

Keyphrases

zika virus
intellectual disability
early onset
autism spectrum disorder