Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.

Jennifer M GassBarbara B HeadSally M ShieldsRoger E StevensonRaymond J Louie

Published in: Birth defects research (2020)

Compound heterozygous variants in TRAPPC12, which encodes a protein involved in Golgi trafficking and mitosis, may disrupt normal brain embryogenesis leading to hydrocephalus and recurrent pregnancy loss.

Keyphrases

early onset
subarachnoid hemorrhage
copy number
resting state
white matter
preterm birth
cerebral ischemia
protein protein
binding protein
amino acid
functional connectivity
endoplasmic reticulum
multiple sclerosis
brain injury
transcription factor
blood brain barrier