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Open Access
Peer-reviewed
Research Article
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
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Anne-Sophie Jannot,
Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France
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Anna Pelet ,
Contributed equally to this work with: Anna Pelet, Alexandra Henrion-Caude
Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France
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Alexandra Henrion-Caude ,
Contributed equally to this work with: Anna Pelet, Alexandra Henrion-Caude
Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France
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Asma Chaoui,
Affiliation INSERM U-955, Créteil, France
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Marine Masse-Morel,
Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France
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Stacey Arnold,
Affiliation Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
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Damien Sanlaville,
Affiliations HCL, Service de génétique, Bron, France, INSERM U-1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Equipe TIGER, Lyon, France
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Isabella Ceccherini,
Affiliation Laboratorio di Genetica Molecolare, Istituto Gaslini, Genova, Italy
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Salud Borrego,
Affiliations Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain, CIBER de Enfermedades Raras, ISCIII, Sevilla, Spain
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Robert M. W. Hofstra,
Affiliation Department of Clinical Genetics, ErasmusMC, University of Rotterdam, Rotterdam, The Netherlands
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Arnold Munnich,
Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France
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Nadège Bondurand,
Affiliation INSERM U-955, Créteil, France
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Aravinda Chakravarti,
Affiliation Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
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Françoise Clerget-Darpoux,
Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France
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Jeanne Amiel,
Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France
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Stanislas Lyonnet
* E-mail: stanislas.lyonnet@inserm.fr
Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France
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Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
- Anne-Sophie Jannot,
- Anna Pelet,
- Alexandra Henrion-Caude,
- Asma Chaoui,
- Marine Masse-Morel,
- Stacey Arnold,
- Damien Sanlaville,
- Isabella Ceccherini,
- Salud Borrego,
- Robert M. W. Hofstra
![PLOS](/resource/img/logo-plos.png)
- Published: May 6, 2013
- https://doi.org/10.1371/journal.pone.0062519