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Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
Braunisch, M C; Gallwitz, H; Abicht, A; Diebold, I; Holinski-Feder, E; Van Maldergem, L; Lammens, M; Kovács-Nagy, R; Alhaddad, B; Strom, T M; Meitinger, T; Senderek, J; Rudnik-Schöneborn, S; Haack, T B.
Afiliação
  • Braunisch MC; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Gallwitz H; Department of Nephrology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Abicht A; Department of Pediatrics, Socio-Pediatric Center, Klinikum Memmingen, Memmingen, Germany.
  • Diebold I; Medical Genetics Center, Munich, Germany.
  • Holinski-Feder E; Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Klinikum der Universität München, Munich, Germany.
  • Van Maldergem L; Medical Genetics Center, Munich, Germany.
  • Lammens M; Medical Genetics Center, Munich, Germany.
  • Kovács-Nagy R; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.
  • Alhaddad B; Center for Human Genetics, University of Franche-Comté, Besançon, France.
  • Strom TM; Department of Pathology, Antwerp University Hospital, Edegem, Belgium.
  • Meitinger T; Department of Neuropathology, Born Bunge Institute, Antwerp University, Wilrijk, Belgium.
  • Senderek J; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Rudnik-Schöneborn S; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Haack TB; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Clin Genet ; 93(2): 255-265, 2018 02.
Article em En | MEDLINE | ID: mdl-28653766
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofias Olivopontocerebelares / Doença dos Neurônios Motores / Proteínas de Transporte de Fosfato / Proteínas Mitocondriais Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofias Olivopontocerebelares / Doença dos Neurônios Motores / Proteínas de Transporte de Fosfato / Proteínas Mitocondriais Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article