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Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Park, Hyun Jin; Shin, Chang Ho; Yoo, Won Joon; Cho, Tae-Joon; Kim, Man Jin; Seong, Moon-Woo; Park, Sung Sup; Lee, Jeong Ho; Sim, Nam Suk; Ko, Jung Min.
Afiliação
  • Park HJ; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Jongnogu Daehakro 101, Seoul, 03080, Republic of Korea.
  • Shin CH; Division of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Yoo WJ; Division of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Cho TJ; Division of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Kim MJ; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Seong MW; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.
  • Park SS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Lee JH; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Sim NS; Graduate School of Medical Science and Engineering, KAIST, Daejeon, Republic of Korea.
  • Ko JM; Graduate School of Medical Science and Engineering, KAIST, Daejeon, Republic of Korea.
Orphanet J Rare Dis ; 15(1): 205, 2020 08 10.
Article em En | MEDLINE | ID: mdl-32778138
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Megalencefalia / Polimicrogiria Tipo de estudo: Screening_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Megalencefalia / Polimicrogiria Tipo de estudo: Screening_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2020 Tipo de documento: Article