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A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
Miyake, N; Inaba, M; Mizuno, S; Shiina, M; Imagawa, E; Miyatake, S; Nakashima, M; Mizuguchi, T; Takata, A; Ogata, K; Matsumoto, N.
Afiliação
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Inaba M; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan.
  • Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan.
  • Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Clin Genet ; 92(5): 554-555, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28771707
ABSTRACT
A novel causative variant (c. 464T>C, p.Leu155Pro) in the heterogeneous nuclear ribonucleoprotein K (HNRNPK) gene.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / Mutação de Sentido Incorreto / Ribonucleoproteínas Nucleares Heterogêneas Grupo K / Face / Doenças Hematológicas Limite: Child, preschool / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / Mutação de Sentido Incorreto / Ribonucleoproteínas Nucleares Heterogêneas Grupo K / Face / Doenças Hematológicas Limite: Child, preschool / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão