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Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.
Schönewolf-Greulich, Bitten; Karstensen, Helena Gásdal; Hjortshøj, Tina D; Jørgensen, Finn Stener; Harder, Katja M; Frevert, Susanne; Hove, Hanne; Diness, Birgitte R.
Afiliação
  • Schönewolf-Greulich B; Dept. of Genetics, Center of Diagnostics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • Karstensen HG; Dept. of Genetics, Center of Diagnostics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark. Electronic address: helena.gasdal.karstensen@regionh.dk.
  • Hjortshøj TD; Dept. of Genetics, Center of Diagnostics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • Jørgensen FS; Fetal Medicine Unit, Dept. of Obstetrics and Gynecology, Copenhagen University Hospital - Amager and Hvidovre, Hvidovre, Denmark; Dept. of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Harder KM; Dept. of Pediatrics and Adolescent Medicine, Juliane Marie Centre, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • Frevert S; Dept. of Radiology, Center of Diagnostics Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • Hove H; Dept. of Pediatrics, Center of Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • Diness BR; Dept. of Genetics, Center of Diagnostics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Dept. of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Eur J Med Genet ; 65(10): 104590, 2022 Oct.
Article em En | MEDLINE | ID: mdl-35964931
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Malformações Vasculares / Anormalidades Musculoesqueléticas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Female / Humans / Male / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Malformações Vasculares / Anormalidades Musculoesqueléticas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Female / Humans / Male / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca