GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.
Joseph M SliepkaSarah C McGriffLinda Z RossettiPeyman BizargityHaley StreffYi-Shan LeeHongzheng DaiSatyamaanasa PolubothuGrace LeeVicky RenJill V HunterDaniel J CurryFernando ScagliaAdekunle M AdesinaIrfan AliVeronica KinslerLindsay C BurrageDana MarafiPublished in: Neurology. Genetics (2019)
The finding of this variant in affected skin and brain tissue of our patient with PPV supports a unifying genetic diagnosis of his neurocutaneous features.