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Putative founder effect of Arg338* AP4M1 ( SPG50 ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

par 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
Référence Clinical genetics, 103, 3, page (346-351)
Publication Publié, 2023-03-31

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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
Mots-clés:	AP4M1
	founder effect
	spastic paraplegia
	SPG50
Note générale:	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:0009-9163
	info:doi/10.1111/cge.14264
	info:scp/85143395734
	info:pmid/36371792