Titre:
  • Putative founder effect of Arg338* AP4M1 ( SPG50 ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
Auteur:Becker, Aurélie; Felici, Charlotte; Lambert, Laëtitia; de Saint Martin, Anne; Abi‐Warde, Marie‐Thérèse; Schaefer, Elise; Zix, Christian; Zamani, Mina; Sadeghian, Saeid; Zeighami, Jawaher; Seifi, Tahereh; Azizimalamiri, Reza; Shariati, Gholamreza; Galehdari, Hamid; Selig, Mareike; Ding, Can; Duerinckx, Sarah; Pirson, Isabelle; Abramowicz, Marc; Clément, Guillemette; Leheup, Bruno; Jonveaux, Philippe; Lefort, Geneviève; Bronner, Myriam; Renaud, Mathilde; Bonnet, Céline
Informations sur la publication:Clinical genetics, 103, 3, page (346-351)
Statut de publication:Publié, 2023-03-31
Sujet CREF:Sciences bio-médicales et agricoles
Langue:Anglais
Identificateurs:urn:issn:0009-9163
info:doi/10.1111/cge.14264
info:pmid/36371792