A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.

Fabiola ValenzaDavide CittaroElia StupkaDonatella BiancoliniMaria Grazia PatricelliDario BonanomiDejan Lazarević

Published in: PloS one (2019)

Our results highlight the variable clinical manifestation of GLI2 mutations and emphasize the value of functional characterisation of novel gene variants to assist genetic counselling and diagnosis.

Keyphrases

copy number
genome wide
dna methylation
case report