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Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Gökpinar Ili, Ezgi; Tasdelen, Elifcan; Durmaz, Ceren Damla; Altiner, Sule; Tuncali, Timur; Martinez-Glez, Victor; Karabulut, Halil Gürhan; Vural, Seçil; Ceylaner, Serdar; Acar, Mustafa Oguz; Ilgin Ruhi, Hatice.
Afiliação
  • Gökpinar Ili E; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
  • Tasdelen E; Genetic Diseases Center, Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey.
  • Durmaz CD; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
  • Altiner S; Genetic Diseases Center, Sanliurfa Eyyübiye Training and Research Hospital, Sanliurfa, Turkey.
  • Tuncali T; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
  • Martinez-Glez V; Genetic Diseases Center, Gazi Yasargil Training and Research Hospital, Diyarbakir, Turkey.
  • Karabulut HG; Department of Medical Genetics, Hacettepe University School of Medicine, Ankara, Turkey.
  • Vural S; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
  • Ceylaner S; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
  • Acar MO; Vascular Malformations Section, Institute of Medical and Molecular Genetics (INGEMM-IdiPAZ), Hospital Universitario La Paz, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.
  • Ilgin Ruhi H; Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
Am J Med Genet A ; 188(6): 1792-1800, 2022 06.
Article em En | MEDLINE | ID: mdl-35238469
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Fosfatidilinositol 3-Quinases / Megalencefalia / Classe I de Fosfatidilinositol 3-Quinases Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Fosfatidilinositol 3-Quinases / Megalencefalia / Classe I de Fosfatidilinositol 3-Quinases Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article