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Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.
Szczaluba, Krzysztof; Chmielewska, Joanna J; Sokolowska, Olga; Rydzanicz, Malgorzata; Szymanska, Krystyna; Feleszko, Wojciech; Wlodarski, Pawel; Biernacka, Anna; Murcia Pienkowski, Victor; Walczak, Anna; Bargel, Elzbieta; Królewczyk, Katarzyna; Nowacka, Agata; Stawinski, Piotr; Nowis, Dominika; Dziembowska, Magdalena; Ploski, Rafal.
Afiliação
  • Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Chmielewska JJ; Laboratory of Molecular Basis of Synaptic Plasticity, Centre of New Technologies, University of Warsaw, Warsaw, Poland.
  • Sokolowska O; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Rydzanicz M; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Szymanska K; Department of Immunology, Center of Biostructure Research, Medical University of Warsaw, Warsaw, Poland.
  • Feleszko W; Laboratory of Experimental Medicine, Center of New Technologies, University of Warsaw, Warsaw, Poland.
  • Wlodarski P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Biernacka A; Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland.
  • Murcia Pienkowski V; Department of Pediatric Respiratory Diseases and Allergy, Medical University of Warsaw, Warsaw, Poland.
  • Walczak A; Department of Methodology, Centre for Preclinical Research, Medical University of Warsaw, Warsaw, Poland.
  • Bargel E; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Królewczyk K; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Nowacka A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Stawinski P; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Nowis D; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Dziembowska M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Ploski R; Department of Methodology, Centre for Preclinical Research, Medical University of Warsaw, Warsaw, Poland.
Clin Genet ; 94(6): 581-585, 2018 12.
Article em En | MEDLINE | ID: mdl-30238967

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article