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Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.

Maria J Nabais SáKerry A MillerMary McQuaidNils KoellingAndrew O M WilkieHugo WurteleArjan P M de BrouwerJorge Oliveira
Published in: Journal of medical genetics (2021)
GINS2 is a new disease-associated gene, expanding the genetic aetiology of MGORS.
Keyphrases
  • genome wide
  • copy number
  • intellectual disability
  • dna methylation
  • genome wide identification
  • autism spectrum disorder
  • gene expression
  • genome wide analysis