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

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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https://hal-normandie-univ.archives-ouvertes.fr/hal-02356422
Contributor : Sophie Coutant <>
Submitted on : Friday, November 8, 2019 - 5:09:38 PM
Last modification on : Thursday, June 25, 2020 - 3:30:38 AM

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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, Wiley, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩. ⟨hal-02356422⟩

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