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Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
Kutkowska-Kazmierczak, Anna; Rydzanicz, Malgorzata; Chlebowski, Aleksander; Klosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elzbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmiec, Tomasz; Jakubowski, Rafal; Gasperowicz, Piotr; Walczak, Anna; Sladowski, Dariusz; Jankowska-Steifer, Ewa; Korniszewski, Lech; Kosinska, Joanna; Obersztyn, Ewa; Nowak, Wieslaw; Sledzinski, Tomasz; Dziembowski, Andrzej; Ploski, Rafal.
Afiliação
  • Kutkowska-Kazmierczak A; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Chlebowski A; Laboratory of RNA Biology and Functional Genomics, Polish Academy of Sciences, Warsaw, Poland.
  • Klosowska-Kosicka K; Laboratory of RNA Biology and Functional Genomics, Polish Academy of Sciences, Warsaw, Poland.
  • Mika A; Department of Environmental Analysis, Faculty of Chemistry, University of Gdansk, Gdansk, Poland.
  • Gruchota J; Department of Pharmaceutical Biochemistry, Medical University of Gdansk, Gdansk, Poland.
  • Jurkiewicz E; Laboratory of RNA Biology and Functional Genomics, Polish Academy of Sciences, Warsaw, Poland.
  • Kowalewski C; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
  • Pollak A; Department of Dermatology and Immunodermatology, Medical University of Warsaw, Warsaw, Poland.
  • Stradomska TJ; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Kmiec T; Department of Biochemistry, Radioimmunology and Experimental Medicine, Children's Memorial Health Institute, Warsaw, Poland.
  • Jakubowski R; Child Neurology Department, The Children's Memorial Health Institute, Warsaw, Poland.
  • Gasperowicz P; Institute of Physics, Faculty of Physics, Astronomy and Informatics, Nicolaus Copernicus University, Torun, Poland.
  • Walczak A; Centre of New Technologies, University of Warsaw, Warsaw, Poland.
  • Sladowski D; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Jankowska-Steifer E; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Korniszewski L; Department of Transplantology and Central Tissue Bank, Centre for Biostructure, Medical University of Warsaw, Warsaw, Poland.
  • Kosinska J; Department of Histology and Embryology, Warsaw Medical University, Warsaw, Poland.
  • Obersztyn E; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Nowak W; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Sledzinski T; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.
  • Dziembowski A; Institue of Physics, Faculty of Physics, Astronomy and Informatics, Nicolaus Copernicus University, Torun, Poland.
  • Ploski R; Department of Pharmaceutical Biochemistry, Medical University of Gdansk, Gdansk, Poland.
J Med Genet ; 55(6): 408-414, 2018 06.
Article em En | MEDLINE | ID: mdl-29496980
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetiltransferases / Transtornos Dismórficos Corporais / Ictiose / Doenças do Sistema Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia
Texto completo
Imprimir
XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetiltransferases / Transtornos Dismórficos Corporais / Ictiose / Doenças do Sistema Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia