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Parietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP.
Papadopoulou, Anna; Bountouvi, Evangelia; Sideri, Vassiliki; Moutsatsou, Paraskevi; Skarakis, Nikitas Spyridon; Doulgeraki, Artemis; Karachaliou, Fotini Eleni.
Afiliação
  • Papadopoulou A; Third Department of Pediatrics, National & Kapodistrian University of Athens, University General Hospital "Attikon", Medical School, Athens, Greece; Department of Clinical Biochemistry, National & Kapodistrian University of Athens, University General Hospital "Attikon", Medical School, Athen
  • Bountouvi E; Third Department of Pediatrics, National & Kapodistrian University of Athens, University General Hospital "Attikon", Medical School, Athens, Greece.
  • Sideri V; Third Department of Pediatrics, National & Kapodistrian University of Athens, University General Hospital "Attikon", Medical School, Athens, Greece.
  • Moutsatsou P; Department of Clinical Biochemistry, National & Kapodistrian University of Athens, University General Hospital "Attikon", Medical School, Athens, Greece.
  • Skarakis NS; Department of Clinical Biochemistry, National & Kapodistrian University of Athens, University General Hospital "Attikon", Medical School, Athens, Greece; Department of Endocrinology and Diabetes Center, "G. Gennimatas", General Hospital of Athens, Athens, Greece.
  • Doulgeraki A; Department of Bone and Mineral Metabolism, Institute of Child Health, Athens, Greece.
  • Karachaliou FE; Third Department of Pediatrics, National & Kapodistrian University of Athens, University General Hospital "Attikon", Medical School, Athens, Greece.
Bone ; 146: 115904, 2021 05.
Article em En | MEDLINE | ID: mdl-33647526
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Cleidocraniana / Hipofosfatasia Limite: Child, preschool / Female / Humans Idioma: En Revista: Bone Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Cleidocraniana / Hipofosfatasia Limite: Child, preschool / Female / Humans Idioma: En Revista: Bone Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2021 Tipo de documento: Article