Titre:
  • Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3
Auteur:Paternoster, Lionel; Soblet, Julie; Aeby, Alec; De Tiege, Xavier; Goldman, Serge; Yue, Wyatt W; Coppens, Sandra; Smits, Guillaume; Vilain, Catheline; Deconinck, Nicolas
Informations sur la publication:American journal of medical genetics. Part A, 182, 11, page (2685-2693)
Statut de publication:Publié, 2020-11-01
Sujet CREF:Sciences bio-médicales et agricoles
Langue:Français
Identificateurs:urn:issn:1552-4825