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Research Article

Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord

  • Alexandre Montpetit equal contributor,

    equal contributor Contributed equally to this work with: Alexandre Montpetit, Stéphanie Côté, Edna Brustein

    Affiliations: McGill University, Montréal, Québec, Canada, Genome Quebec Innovation Centre, Montréal, Québec, Canada

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  • Stéphanie Côté equal contributor,

    equal contributor Contributed equally to this work with: Alexandre Montpetit, Stéphanie Côté, Edna Brustein

    Affiliation: Centre d'excellence en neuromique de l'Université de Montréal, CHUM Research Center–Notre Dame Hospital, Université de Montréal, Montréal, Québec, Canada

    X
  • Edna Brustein equal contributor,

    equal contributor Contributed equally to this work with: Alexandre Montpetit, Stéphanie Côté, Edna Brustein

    Affiliation: Department of Pathology and Cell Biology, Faculté de médecine and Groupe de recherche sur le système nerveux, Université de Montréal, Montréal, Québec, Canada

    X
  • Christian A. Drouin,

    Affiliation: Department of Dermatology, Centre Hospitalier Régional Grand-Portage, Rivière-du-Loup, Québec, Canada

    X
  • Line Lapointe,

    Affiliation: Centre d'excellence en neuromique de l'Université de Montréal, CHUM Research Center–Notre Dame Hospital, Université de Montréal, Montréal, Québec, Canada

    X
  • Michèle Boudreau,

    Affiliations: McGill University, Montréal, Québec, Canada, Genome Quebec Innovation Centre, Montréal, Québec, Canada

    X
  • Caroline Meloche,

    Affiliation: Centre d'excellence en neuromique de l'Université de Montréal, CHUM Research Center–Notre Dame Hospital, Université de Montréal, Montréal, Québec, Canada

    X
  • Régen Drouin,

    Affiliation: Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec, Canada

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  • Thomas J. Hudson,

    Affiliation: Ontario Institute for Cancer Research, Toronto, Ontario, Canada

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  • Pierre Drapeau,

    Affiliation: Department of Pathology and Cell Biology, Faculté de médecine and Groupe de recherche sur le système nerveux, Université de Montréal, Montréal, Québec, Canada

    X
  • Patrick Cossette mail

    patrick.cossette@umontreal.ca

    Affiliation: Centre d'excellence en neuromique de l'Université de Montréal, CHUM Research Center–Notre Dame Hospital, Université de Montréal, Montréal, Québec, Canada

    X
  • Published: December 05, 2008
  • DOI: 10.1371/journal.pgen.1000296

About the Authors

Alexandre Montpetit, Michèle Boudreau
McGill University, Montréal, Québec, Canada
Alexandre Montpetit, Michèle Boudreau
Genome Quebec Innovation Centre, Montréal, Québec, Canada
Stéphanie Côté, Line Lapointe, Caroline Meloche, Patrick Cossette
Centre d'excellence en neuromique de l'Université de Montréal, CHUM Research Center–Notre Dame Hospital, Université de Montréal, Montréal, Québec, Canada
Edna Brustein, Pierre Drapeau
Department of Pathology and Cell Biology, Faculté de médecine and Groupe de recherche sur le système nerveux, Université de Montréal, Montréal, Québec, Canada
Christian A. Drouin
Department of Dermatology, Centre Hospitalier Régional Grand-Portage, Rivière-du-Loup, Québec, Canada
Régen Drouin
Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec, Canada
Thomas J. Hudson
Ontario Institute for Cancer Research, Toronto, Ontario, Canada

Corresponding Author

Email: patrick.cossette@umontreal.ca

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: AM SC EB TJH PD PC. Performed the experiments: AM SC EB LL MB CM. Analyzed the data: AM SC EB CM PC. Contributed reagents/materials/analysis tools: CAD RD TJH PD PC. Wrote the paper: AM SC EB CAD CM PD PC. Clinical evaluation: CAD.