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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Nakayama, Tojo; Al-Maawali, Almundher; El-Quessny, Malak; Rajab, Anna; Khalil, Samir; Stoler, Joan M; Tan, Wen-Hann; Nasir, Ramzi; Schmitz-Abe, Klaus; Hill, R Sean; Partlow, Jennifer N; Al-Saffar, Muna; Servattalab, Sarah; LaCoursiere, Christopher M; Tambunan, Dimira E; Coulter, Michael E; Elhosary, Princess C; Gorski, Grzegorz; Barkovich, A James; Markianos, Kyriacos; Poduri, Annapurna; Mochida, Ganeshwaran H.
  • Nakayama T; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Al-Maawali A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Genetics, College of Medicine and Health Science, Sultan Qaboos University, Muscat
  • El-Quessny M; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Rajab A; National Genetics Center, Directorate General of Health Affairs, Ministry of Health, Muscat 113, Oman.
  • Khalil S; Department of Pediatrics, Al-Makassed Islamic Charitable Society Hospital, Jerusalem 91220; Faculty of Medicine, Al-Quds University, Jerusalem 90612.
  • Stoler JM; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Tan WH; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Nasir R; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA.
  • Schmitz-Abe K; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and
  • Hill RS; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.
  • Partlow JN; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.
  • Al-Saffar M; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Department o
  • Servattalab S; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.
  • LaCoursiere CM; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Tambunan DE; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Coulter ME; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Harvard-MIT
  • Elhosary PC; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Department o
  • Gorski G; Cellular Neuroscience Core, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
  • Barkovich AJ; Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Markianos K; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and
  • Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Mochida GH; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Pediatric Neurology Uni
Am J Hum Genet ; 96(5): 709-19, 2015 May 07.
Article en En | MEDLINE | ID: mdl-25865492
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Pirrolina Carboxilato Reductasas / Antiportadores / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Enfermedades Mitocondriales / Sistemas de Transporte de Aminoácidos Acídicos / Microcefalia Límite: Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Pirrolina Carboxilato Reductasas / Antiportadores / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Enfermedades Mitocondriales / Sistemas de Transporte de Aminoácidos Acídicos / Microcefalia Límite: Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article