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Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.
Kawai, Tomoko; Iwasaki, Yuji; Ogata-Kawata, Hiroko; Kamura, Hiromi; Nakamura, Kazuaki; Hata, Kenichiro; Takano, Takako; Nakabayashi, Kazuhiko.
Afiliação
  • Kawai T; Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan.
  • Iwasaki Y; Department of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Koto, Tokyo, 136-0075, Japan.
  • Ogata-Kawata H; Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan.
  • Kamura H; Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan.
  • Nakamura K; Department of Pharmacology, Research Institute, National Center for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan.
  • Hata K; Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan; Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Maebashi, Gunma, 371-8511, Japan.
  • Takano T; Department of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Koto, Tokyo, 136-0075, Japan; Department of Child Health, Tokyo Kasei University, Itabashi, Tokyo, 173-8602, Japan. Electronic address: takano@tokyo-kasei.ac.jp.
  • Nakabayashi K; Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan. Electronic address: nakabaya-k@ncchd.go.jp.
Eur J Med Genet ; 66(8): 104806, 2023 Aug.
Article em En | MEDLINE | ID: mdl-37379880
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article