title: EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
authors.affiliation: I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France.
authors.forename: Elena
authors.initials: E
authors.lastname: Gargaun
authors.affiliation: I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France.
authors.forename: Andreea Mihaela
authors.initials: AM
authors.lastname: Seferian
authors.affiliation: I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France.
authors.forename: Ruxandra
authors.initials: R
authors.lastname: Cardas
authors.affiliation: I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France.
authors.forename: Anne-Gaelle
authors.initials: AG
authors.lastname: Le Moing
authors.affiliation: Neurological Function Test EMG/EEG Robert Debré Hospital, Paris, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Delanoe
authors.affiliation: Molecular Genetics and Biochemistry Unit, HUPC Cochin Hospital, Paris, France.
authors.forename: Juliette
authors.initials: J
authors.lastname: Nectoux
authors.affiliation: Sorbonne University, UPMC Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, 75013, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Nelson
authors.affiliation: Sorbonne University, UPMC Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, 75013, Paris, France.
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
authors.affiliation: National Center of Genotyping, Institute of Genomics, CEA, Evry, France.
authors.forename: Marie-Thérèse
authors.initials: MT
authors.lastname: Bihoreau
authors.affiliation: National Center of Genotyping, Institute of Genomics, CEA, Evry, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Deleuze
authors.affiliation: National Center of Genotyping, Institute of Genomics, CEA, Evry, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Boland
authors.affiliation: Bioinformatic Platform, Imagine Institute, Sorbonne University, Paris-Descartes, Paris, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Masson
authors.affiliation: I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Servais
authors.affiliation: I-Motion, Pediatric Platform of Clinical Trials, Trousseau Hospital, Paris, France. t.gidaro@institut-myologie.org.
authors.forename: Teresa
authors.initials: T
authors.lastname: Gidaro
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D051767:Early Growth Response Protein 2 / Q000235:genetics*; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D009154:Mutation / Q000235:genetics*
chemical_list: C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2