Neurology

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability

  • Authors: Amélie Cordovado; Yvan Hérenger; Coline Cormier; Estrella López-Martín; Hannah Stamberger; Laurence Faivre; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Hamza Hadj Abdallah; Giulia Barcia; Thomas Courtin; Beatriz Martínez-Delgado; Eva Bermejo-Sánchez; María J Barrero; Brooklynn Gasser; Stéphane Bezieau; Sébastien Küry; Sarah Weckhuysen; Frédéric Laumonnier; Annick Toutain; Marie-Laure Vuillaume
  • Collaborators: Antwerp University Hospital; Centre Hospitalier Régional Universitaire de Tours; CHU Nantes, Service de Génétique Médicale, Nantes, France; Necker-Enfants Malades Hospital; University of Burgundy and Franche-Comté
  • Journal: Human Mutation
  • Date: 2025 - Mar

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