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Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Heide, Solveig; Argilli, Emanuela; Valence, Stéphanie; Boutaud, Lucile; Roux, Nathalie; Mignot, Cyril; Nava, Caroline; Keren, Boris; Giraudat, Kim; Faudet, Anne; Gerasimenko, Anna; Garel, Catherine; Blondiaux, Eleonore; Rastetter, Agnès; Grevent, David; Le, Carolyn; Mackenzie, Lisa; Richards, Linda; Attié-Bitach, Tania; Depienne, Christel; Sherr, Elliott; Héron, Delphine.
Affiliation
  • Heide S; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France solveig.heide@aphp.fr.
  • Argilli E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.
  • Valence S; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, USA.
  • Boutaud L; Department of Neuropediatry & Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Hopital Armand-Trousseau, Paris, France.
  • Roux N; Genomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Mignot C; Genomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Nava C; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.
  • Keren B; Department of Genetics, Unit of Developmental Genomics, AP-HP.Sorbonne Université, Pitié-Salpêtrière Hospital, Paris, France.
  • Giraudat K; Department of Genetics, Unit of Developmental Genomics, AP-HP.Sorbonne Université, Pitié-Salpêtrière Hospital, Paris, France.
  • Faudet A; Department of Neuropediatry & Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Hopital Armand-Trousseau, Paris, France.
  • Gerasimenko A; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.
  • Garel C; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.
  • Blondiaux E; Department of pediatric and prenatal imaging, Armand-Trousseau Hospital, Sorbonne Université, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
  • Rastetter A; Department of pediatric and prenatal imaging, Armand-Trousseau Hospital, Sorbonne Université, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
  • Grevent D; Paris Brain Institute (ICM Institut du Cerveau), Sorbonne Université, INSERM UMR S 1127, Paris, France.
  • Le C; Radiology Department, Hopital universitaire Necker-enfants Malades, Paris, France.
  • Mackenzie L; EA fetus 7328 and LUMIERE Platform, Université de Paris, Paris, France.
  • Richards L; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, USA.
  • Attié-Bitach T; Department of Neurology, University of California, Institute of Human Genetics and Weill Institute for Neurosciences, San Francisco, California, USA.
  • Depienne C; Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, Missouri, USA.
  • Sherr E; Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, Missouri, USA.
  • Héron D; Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.
J Med Genet ; 61(3): 244-249, 2024 Feb 21.
Article in En | MEDLINE | ID: mdl-37857482
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability / Nervous System Malformations Limits: Female / Humans / Newborn Language: En Journal: J Med Genet Year: 2024 Document type: Article Affiliation country: France Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability / Nervous System Malformations Limits: Female / Humans / Newborn Language: En Journal: J Med Genet Year: 2024 Document type: Article Affiliation country: France Country of publication: United kingdom