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De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
Laquerriere, Annie; Gonzales, Marie; Saillour, Yoann; Cavallin, Mara; Joye, Nicole; Quelin, Chloé; Bidat, Laurent; Dommergues, Marc; Plessis, Ghislaine; Encha-Razavi, Ferechte; Chelly, Jamel; Bahi-Buisson, Nadia; Poirier, Karine.
Affiliation
  • Laquerriere A; Pathology Laboratory, Rouen University Hospital, France; Region-Inserm Team NeoVasc ERI28, Laboratory of Microvascular Endothelium and Neonate Brain Lesions, Institute of Research Innovation in Biomedecine, Normandy University, Rouen, France.
  • Gonzales M; Department of Medical Genetics, Armand Trousseau Hospital, APHP, Paris, France; Sorbonne Universities, UPMC, Paris, France.
  • Saillour Y; Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Cavallin M; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, Necker Enfants Malades University Hospital, Paris, France; INSERM UMR-1163, Embryology and Genetics of Congenital Malformation Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Un
  • Joye N; Department of Medical Genetics, Armand Trousseau Hospital, APHP, Paris, France; Sorbonne Universities, UPMC, Paris, France.
  • Quelin C; Department of Clinical Genetics, South University Hospital, Rennes, France.
  • Bidat L; Department of Prenatal Diagnosis, Department of Obstetrics and Gynecology, René Dubos Hospital, Pontoise, France.
  • Dommergues M; Sorbonne Universities, UPMC, Paris, France; Department of Obstetrics and Gynecology, Groupe Hospitalier Pitié Salpêtrière, APHP, Paris, France.
  • Plessis G; Department of Genetics, Clinical Genetics, Caen University Hospital, Caen, France.
  • Encha-Razavi F; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, Necker Enfants Malades University Hospital, Paris, France; Département de Génétique, Necker-Enfants Malades University Hospital, Paris, France.
  • Chelly J; Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et Biologie Moléculaire et Cellulaire - IGBMC, INSERM, CNRS, Université de Strasbourg, Strasbourg, France.
  • Bahi-Buisson N; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, Necker Enfants Malades University Hospital, Paris, France; INSERM UMR-1163, Embryology and Genetics of Congenital Malformation Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Un
  • Poirier K; Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Eur J Med Genet ; 59(4): 249-56, 2016 Apr.
Article in En | MEDLINE | ID: mdl-26732629
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Full text: 1 Database: MEDLINE Main subject: Arthrogryposis / Tubulin / Malformations of Cortical Development / Microcephaly Type of study: Etiology_studies Limits: Adult / Female / Humans Language: En Year: 2016 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Arthrogryposis / Tubulin / Malformations of Cortical Development / Microcephaly Type of study: Etiology_studies Limits: Adult / Female / Humans Language: En Year: 2016 Type: Article