Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder - Normandie Université Access content directly
Journal Articles American Journal of Medical Genetics Part A Year : 2019

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

Antoine Bonnevalle
  • Function : Author
Alexandra Chadie
  • Function : Author
Claire Gayet
  • Function : Author
Jean-Baptiste Leca
  • Function : Author
Tristan Hazelzet
  • Function : Author
Ferielle Louillet
  • Function : Author
Anne Boland
Jean-François Deleuze
  • Function : Author
  • PersonId : 1015006

Abstract

SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report.

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Genetics
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Dates and versions

hal-02356422 , version 1 (08-11-2019)

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François Lecoquierre, Antoine Bonnevalle, Alexandra Chadie, Claire Gayet, Clémentine Dumant-Forest, et al.. Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder. American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩. ⟨hal-02356422⟩
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