Biallelic variants in GLE1 with survival beyond neonatal period

Clin Genet. 2020 Dec;98(6):622-625. doi: 10.1111/cge.13841. Epub 2020 Sep 20.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arthrogryposis / complications
  • Arthrogryposis / diagnosis
  • Arthrogryposis / genetics*
  • Arthrogryposis / pathology
  • Genetic Predisposition to Disease
  • Humans
  • Infant, Newborn
  • Motor Neuron Disease / complications
  • Motor Neuron Disease / diagnosis
  • Motor Neuron Disease / genetics*
  • Motor Neuron Disease / pathology
  • Nucleocytoplasmic Transport Proteins / genetics*

Substances

  • Gle1 protein, human
  • Nucleocytoplasmic Transport Proteins

Supplementary concepts

  • Lethal congenital contracture syndrome 1