Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome : frequent 5q35 microdeletion and identification of four novel NSD1 mutations

• Young Bae Sohn

• Cha Gon Lee

• Jung Min Ko

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 58 (2), 73-77, 2013-02

  Tokyo : Springer Nature

キーワード

• Macrocephaly
• 5q35 microdeletion
• NSD1
• overgrowth
• Sotos syndrome

詳細情報

• CRID: 1520573330348519808
• NII論文ID: 10031156427
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 024272290
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I024272290
• Web Site: https://search.jamas.or.jp/link/ui/2013276351
• 本文言語コード: en
• NDL 雑誌分類:
  • ZS16(科学技術--医学--人類遺伝学)
• データソース種別:
  • NDL
  • CiNii Articles