Hirschsprung disease, associated syndromes and genetics: a review

Journal of Medical Genetics - Tập 45 Số 1 - Trang 1-14
Jeanne Amiel1, Eileen Sproat-Emison2, Maria‐Mercè Garcia‐Barceló3, Francesca Lantieri4,5, Grzegorz Burzynski6, Salud Borrego7, Anna Pelet8,9,10, Stacey Arnold2, Xiaoping Miao3, Paola Griseri5, A S Brooks11,6, Guillermo Antiñolo7, Loïc de Pontual8,9,10, Mathieu Clément‐Ziza8,9,10, Arnold Münnich8,9,10, Carl Kashuk2, Kristen M. West2, Kenneth K. Wong3, Stanislas Lyonnet8,9,10, Aravinda Chakravarti2, Paul KH Tam3, Isabella Ceccherini5, Robert M.W. Hofstra6, Raquel M. Fernández7
1INSERM U781 et Département de Génétique, Hôpital Necker-Enfants Malades, 149, rue de Sèvres 75743 Paris Cedex 15, France
2McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA
3Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China
4Dipartimento di Scienze della Salute, Sezione Biostatistica, Universitè degli Studi di Genova, Genova, Italy
5Laboratorio di Genetica Molecolare, Istituto G. Gaslini, L.go G. Gaslini 5, Italy
6Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
7Unidad Clinica de Genetica y Reproduccion. Hospitales Universitarios Virgen del Rocio and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Sevilla, Spain
8AP-HP, Hôpital Necker-Enfant Malades, Paris, France
9INSERM U-781
10Université Paris 5-Descartes, Faculté de Médecine
11Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands

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Journal of Medical Genetics

Tập 45 Số 1

1-14

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