Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.,Neurogenetics

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Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
Neurogenetics ( IF 2.2 ) Pub Date : 2015-09-20 , DOI: 10.1007/s10048-015-0459-8
Mara Cavallin _{1,

2} , Laurence Hubert _{1,

3} , Vincent Cantagrel _{1,

4} , Arnold Munnich _{1,

3,

5} , Nathalie Boddaert _{6,

7} , Catherine Vincent-Delorme ₈ , Jean Christophe Cuvellier ₉ , Cecile Masson ₁₀ , Claude Besmond ₃ , Nadia Bahi-Buisson _{1,

2,

11,

12}

Affiliation

Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
Embryology and genetics of congenital malformations, INSERM UMR-1163, Paris, France.
Translational Genetics, INSERM UMR-1163, Paris, France.
Laboratory of Neurogenetics, INSERM UMR-1163, Paris, France.
Departments of Genetics, Necker Enfants Malades University Hospital, APHP, Paris, France.
Departments of Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, Paris, France.
Image, INSERM UMR-1163, Paris, France.
Departments of Genetics, Lille University Hospital, Paris, France.
Pediatric Neurology, Lille University Hospital, Paris, France.
Plateforme Bioinformatique, Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
Pediatric Neurology, Necker Enfants Malades University Hospital, APHP, Paris, France.
Embryology and genetics of congenital malformations, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine-INSERM UMR-1163, Paris, France.