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Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra, Rami; Philippe, Orianne; Raas-Rothschild, Annick; Eck, Sebastian H; Graf, Elisabeth; Buchert, Rebecca; Borck, Guntram; Ekici, Arif; Brockschmidt, Felix F; Nöthen, Markus M; Munnich, Arnold; Strom, Tim M; Reis, Andre; Colleaux, Laurence.
Afiliación
  • Abou Jamra R; Institute of Human Genetics, University of Erlangen, D-91054 Erlangen, Germany. Electronic address: rami.aboujamra@uk-erlangen.de.
  • Philippe O; INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France.
  • Raas-Rothschild A; Department of Human Genetics and Metabolic Diseases, Hadassah Hebrew University Medical Center, 91120 Jerusalem, Israel.
  • Eck SH; Institute of Human Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, D-85764 Neuherberg, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, D-85764 Neuherberg, Germany.
  • Buchert R; Institute of Human Genetics, University of Erlangen, D-91054 Erlangen, Germany.
  • Borck G; INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France.
  • Ekici A; Institute of Human Genetics, University of Erlangen, D-91054 Erlangen, Germany.
  • Brockschmidt FF; Department of Genomics, Life and Brain Center, University of Bonn, D-53127 Bonn, Germany; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany.
  • Nöthen MM; Department of Genomics, Life and Brain Center, University of Bonn, D-53127 Bonn, Germany; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany.
  • Munnich A; INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France.
  • Strom TM; Institute of Human Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, D-85764 Neuherberg, Germany; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, D-80634 München, Germany.
  • Reis A; Institute of Human Genetics, University of Erlangen, D-91054 Erlangen, Germany.
  • Colleaux L; INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France. Electronic address: laurence.colleaux@inserm.fr.
Am J Hum Genet ; 88(6): 788-795, 2011 Jun 10.
Article en En | MEDLINE | ID: mdl-21620353
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía / Carácter / Complejo 4 de Proteína Adaptadora / Características Humanas / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2011 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía / Carácter / Complejo 4 de Proteína Adaptadora / Características Humanas / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2011 Tipo del documento: Article