Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2020) Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. American Journal of Medical Genetics Part A. ISSN 1552-4825

Abstract

Metadata

Authors/Creators:
  • Kanani, F.
  • Titheradge, H.
  • Cooper, N.
  • Elmslie, F.
  • Lees, M.M.
  • Juusola, J.
  • Pisani, L.
  • McKenna, C.
  • Mignot, C.
  • Valence, S.
  • Keren, B.
  • Lachlan, K.
  • Balasubramanian, M. https://orcid.org/0000-0003-1488-3695
Copyright, Publisher and Additional Information: © 2020 Wiley.
Keywords: developmental delay; early‐onset seizures; epileptic encephalopathy; intellectual disability; YWHAG
Dates:
  • Accepted: 27 December 2019
  • Published (online): 11 January 2020
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 24 Jan 2020 14:12
Last Modified: 24 Jan 2020 14:12
Status: Published online
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.61483
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