A recurrent homozygous single amino acid deletion (p.Glu133del) in MED22 leads to a progressive neurodevelopmental disorder with microcephaly, dystonia, seizures and neurodegeneration Conference Proceeding uri icon

Overview

publication date

  • December 1, 2024

Date in CU Experts

  • April 21, 2025 11:18 AM

Full Author List

  • Cali E; Lescouzeres L; Savitskiy M; Severino M; Fortuna S; Soler M; Katanaev V; Taatjes D; Houlden H; Patten SA

author count

  • 11

citation count

  • 0

Other Profiles

International Standard Serial Number (ISSN)

  • 1018-4813

Electronic International Standard Serial Number (EISSN)

  • 1476-5438

Additional Document Info

start page

  • 832

end page

  • 832

volume

  • 32