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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Seyama, Rie; Uchiyama, Yuri; Kaneshi, Yosuke; Hamanaka, Kohei; Fujita, Atsushi; Tsuchida, Naomi; Koshimizu, Eriko; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Makino, Shintaro; Itakura, Atsuo; Okamoto, Nobuhiko; Matsumoto, Naomichi.
Afiliação
  • Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Uchiyama Y; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
  • Kaneshi Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Hamanaka K; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Fujita A; Department of Pediatrics, Kushiro Red Cross Hospital, Kushiro, Japan.
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Misawa K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Makino S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Itakura A; RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.
  • Okamoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.
J Hum Genet ; 68(5): 363-367, 2023 May.
Article em En | MEDLINE | ID: mdl-36631501
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose Limite: Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose Limite: Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão