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Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Yeung, Kit San; Ip, Janice Jing Kun; Chow, Chin Pang; Kuong, Evelyn Yue Ling; Tam, Paul Kwong-Hang; Chan, Godfrey Chi-Fung; Chung, Brian Hon-Yin.
Afiliação
  • Yeung KS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Ip JJ; Department of Radiology, Queen Mary Hospital, Hong Kong, China.
  • Chow CP; Child Assessment Service, Department of Health, Hong Kong, China.
  • Kuong EY; Department of Orthopaedics and Traumatology, Queen Mary Hospital, Hong Kong, China.
  • Tam PK; Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Chan GC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Chung BH; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Am J Med Genet A ; 173(4): 978-984, 2017 Apr.
Article em En | MEDLINE | ID: mdl-28328134

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Escoliose / Síndrome de Klippel-Trenaunay-Weber / Malformações Vasculares / Classe I de Fosfatidilinositol 3-Quinases / Mutação / Nevo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Escoliose / Síndrome de Klippel-Trenaunay-Weber / Malformações Vasculares / Classe I de Fosfatidilinositol 3-Quinases / Mutação / Nevo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article