Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Vegas, Nancy; Cavallin, Mara; Kleefstra, Tjitske; de Boer, Lonneke; Philbert, Marion; Maillard, Camille; Boddaert, Nathalie; Munnich, Arnold; Hubert, Laurence; Bery, Amandine; Besmond, Claude; Bahi-Buisson, Nadia

Vegas, Nancy; Cavallin, Mara; Kleefstra, Tjitske; de Boer, Lonneke; Philbert, Marion; Maillard, Camille; Boddaert, Nathalie; Munnich, Arnold; Hubert, Laurence; Bery, Amandine; Besmond, Claude; Bahi-Buisson, Nadia.

Afiliación

Vegas N; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades University Hospital, Paris, France.
Cavallin M; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades University Hospital, Paris, France.
Kleefstra T; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
de Boer L; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
Philbert M; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades University Hospital, Paris, France.
Maillard C; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Boddaert N; Pediatric Radiology APHP- Necker Enfants Malades University Hospital, Paris, France; INSERM U1000 and UMR 1163, Institut Imagine, Paris, France.
Munnich A; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; INSERM UMR-1163, Translational Genetics, Institut Imagine, Paris, France.
Hubert L; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; INSERM UMR-1163, Translational Genetics, Institut Imagine, Paris, France; Bioinformatic Platform, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Bery A; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Besmond C; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; INSERM UMR-1163, Translational Genetics, Institut Imagine, Paris, France; Bioinformatic Platform, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Bahi-Buisson N; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades University Hospital, Paris, France; Reference Cente

Eur J Med Genet ; 61(12): 759-764, 2018 Dec.

Article en En | MEDLINE | ID: mdl-30268909

Asunto(s)

Discapacidad Intelectual/genética; Lisencefalia/genética; Trastornos del Neurodesarrollo/genética; Proteínas de Dominio T Box/genética; Trastorno del Espectro Autista/genética; Trastorno del Espectro Autista/fisiopatología; Niño; Codón sin Sentido; Exoma/genética; Mutación del Sistema de Lectura/genética; Estudios de Asociación Genética; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Discapacidad Intelectual/fisiopatología; Lisencefalia/fisiopatología; Masculino; Trastornos del Neurodesarrollo/fisiopatología

Palabras clave

Autistic spectrum disorder; Cortical malformation; Developmental delay; Intellectual disability; Neurodevelopmental disorder; TBR1

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Dominio T Box / Lisencefalia / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Francia

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