Biallelic truncating variants in VGLL2 cause syngnathia in humans.

Valeria AgostiniAude TessierNabila DjaziriRoman Hossein KhonsariEva GallianiYukiko KuriharaMasahiko HondaHiroki KuriharaKyoko HidakaGokhan TuncbilekArnaud PicardErsoy KonasJeanne AmielChristopher T Gordon

Published in: Journal of medical genetics (2023)

leads to a striking jaw phenotype in humans, other vertebrates may have the capacity to compensate for its absence during craniofacial development.

Keyphrases

copy number
intellectual disability
autism spectrum disorder
dna methylation
genome wide