Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Sara CabetAudrey PutouxAnnie BuenerdLucie GueneauAlexandre ReymondEdwin W H ThiaAngeline H M LaiErica M SchindewolfDamien SanlavilleGaetan LescaLaurent Guibaud

Published in: Prenatal diagnosis (2019)

Keyphrases

high resolution
pregnant women
intellectual disability
subarachnoid hemorrhage
copy number
brain injury
dna methylation
gene expression
mass spectrometry