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Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
Jezela-Stanek, Aleksandra; Szczepanik, Elzbieta; Mierzewska, Hanna; Rydzanicz, Malgorzata; Rutkowska, Karolina; Knaus, Alexej; Smigiel, Robert; Stepniak, Iwona; Markiewicz, Michal G; Boniel, Snir; Krawitz, Peter; Ploski, Rafal.
  • Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
  • Szczepanik E; Clinic of Pediatric Neurology, Institute of Mother and Child, Warsaw, Poland.
  • Mierzewska H; Clinic of Pediatric Neurology, Institute of Mother and Child, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Rutkowska K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Smigiel R; Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
  • Stepniak I; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Markiewicz MG; First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Boniel S; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Clin Genet ; 98(5): 468-476, 2020 11.
Article en En | MEDLINE | ID: mdl-32725661
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Convulsiones / Aciltransferasas / Glicosilfosfatidilinositoles / Epilepsia / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Infant / Male País como asunto: Europa Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Convulsiones / Aciltransferasas / Glicosilfosfatidilinositoles / Epilepsia / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Infant / Male País como asunto: Europa Idioma: En Año: 2020 Tipo del documento: Article