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A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.
Jaouadi, Hager; Chehida, Amel Ben; Kraoua, Lilia; Etchevers, Heather C; Argiro, Laurent; Kasdallah, Nadia; Blibech, Sonia; Delague, Valérie; Lévy, Nicolas; Tebib, Néji; Mrad, Ridha; Abdelhak, Sonia; Benkhalifa, Rym; Zaffran, Stéphane.
Affiliation
  • Jaouadi H; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05,Institut Pasteur de Tunis,Université Tunis El Manar,Tunis,Tunisia.
  • Chehida AB; Department of Pediatrics and Metabolic Diseases,La Rabta Hospital,Faculty of Medicine of Tunis,University of Tunis El Manar,Tunis,Tunisia.
  • Kraoua L; Department of Congenital and Hereditary Diseases,Charles Nicolle Hospital,Faculty of Medicine of Tunis,University of Tunis El Manar,Tunis,Tunisia.
  • Etchevers HC; Aix Marseille Univ,INSERM,MMG,U1251,Marseille Medical Genetics,Marseille,France.
  • Argiro L; Aix Marseille Univ,INSERM,MMG,U1251,Marseille Medical Genetics,Marseille,France.
  • Kasdallah N; Neonatal Resuscitation and Intensive Care Unit of Military Hospital of Tunis,Military Hospital of Tunis,Tunisia.
  • Blibech S; Neonatal Resuscitation and Intensive Care Unit of Military Hospital of Tunis,Military Hospital of Tunis,Tunisia.
  • Delague V; Aix Marseille Univ,INSERM,MMG,U1251,Marseille Medical Genetics,Marseille,France.
  • Lévy N; Aix Marseille Univ,INSERM,MMG,U1251,Marseille Medical Genetics,Marseille,France.
  • Tebib N; Department of Pediatrics and Metabolic Diseases,La Rabta Hospital,Faculty of Medicine of Tunis,University of Tunis El Manar,Tunis,Tunisia.
  • Mrad R; Department of Congenital and Hereditary Diseases,Charles Nicolle Hospital,Faculty of Medicine of Tunis,University of Tunis El Manar,Tunis,Tunisia.
  • Abdelhak S; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05,Institut Pasteur de Tunis,Université Tunis El Manar,Tunis,Tunisia.
  • Benkhalifa R; Venoms and Therapeutic Biomolecules Laboratory LR16IPT08,Institut Pasteur de Tunis,Université Tunis El Manar,Tunisia.
  • Zaffran S; Aix Marseille Univ,INSERM,MMG,U1251,Marseille Medical Genetics,Marseille,France.
Genet Res (Camb) ; 101: e6, 2019 04 29.
Article in En | MEDLINE | ID: mdl-31030682
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Full text: 1 Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Proto-Oncogene Proteins c-raf / Noonan Syndrome Type of study: Prognostic_studies Limits: Female / Humans / Infant Country/Region as subject: Africa Language: En Year: 2019 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Proto-Oncogene Proteins c-raf / Noonan Syndrome Type of study: Prognostic_studies Limits: Female / Humans / Infant Country/Region as subject: Africa Language: En Year: 2019 Type: Article