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Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Mejlachowicz, Dan; Nolent, Flora; Maluenda, Jérome; Ranjatoelina-Randrianaivo, Hanitra; Giuliano, Fabienne; Gut, Ivo; Sternberg, Damien; Laquerrière, Annie; Melki, Judith.
Afiliação
  • Mejlachowicz D; UMR-1169, INSERM and University of Paris South, Le Kremlin Bicêtre, 94276, France.
  • Nolent F; UMR-1169, INSERM and University of Paris South, Le Kremlin Bicêtre, 94276, France.
  • Maluenda J; UMR-1169, INSERM and University of Paris South, Le Kremlin Bicêtre, 94276, France.
  • Ranjatoelina-Randrianaivo H; Medical Genetic Unit, South University Hospital, St Pierre-La Réunion, 97448, France.
  • Giuliano F; Reference Center of Developmental Anomalies and Malformations, University Hospital of Nice, Nice, 06000, France.
  • Gut I; Centro Nacional de Análisis Genómico, Barcelona, 080028, Spain.
  • Sternberg D; Service de Biochimie Métabolique and UMR 1127-7225, Hôpitaux Universitaires Pitié-Salpêtrière, Paris, 75651, France.
  • Laquerrière A; Pathology Laboratory and NeoVasc Region-INSERM Team ERI28, Institute of Research for Innovation in Biomedicine, University of Rouen, Rouen, 76031, France.
  • Melki J; UMR-1169, INSERM and University of Paris South, Le Kremlin Bicêtre, 94276, France. Electronic address: judith.melki@inserm.fr.
Am J Hum Genet ; 97(4): 616-20, 2015 Oct 01.
Article em En | MEDLINE | ID: mdl-26365340
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Prader-Willi / Artrogripose / Cromossomos Humanos Par 15 / Proteínas / Feto / Mutação Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Prader-Willi / Artrogripose / Cromossomos Humanos Par 15 / Proteínas / Feto / Mutação Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article