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The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.
Hiippala, Anita; Vasilescu, Catalina; Tallila, Jonna; Alastalo, Tero-Pekka; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu; Euro, Liliya; Ojala, Tiina.
Affiliation
  • Hiippala A; Department of Pediatric Cardiology, Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  • Vasilescu C; Research Program Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
  • Tallila J; Blueprint Genetics, Helsinki, Finland.
  • Alastalo TP; Blueprint Genetics, Helsinki, Finland.
  • Paetau A; Pediatric Research Laboratory, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  • Tyni T; Department of Pathology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  • Suomalainen A; Research Program Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
  • Euro L; Research Program Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
  • Ojala T; Research Program Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
Am J Med Genet A ; 170(6): 1433-8, 2016 06.
Article in En | MEDLINE | ID: mdl-26888048
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Cardiomyopathy, Hypertrophic / Proto-Oncogene Proteins p21(ras) / Costello Syndrome / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Finland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Cardiomyopathy, Hypertrophic / Proto-Oncogene Proteins p21(ras) / Costello Syndrome / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Finland