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Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
Fukushi, Daisuke; Kurosawa, Kenji; Suzuki, Yasuyo; Suzuki, Kaoru; Yamada, Kenichiro; Watanabe, Seiji; Yokochi, Kenji; Wakamatsu, Nobuaki.
Afiliação
  • Fukushi D; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
  • Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
  • Suzuki Y; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
  • Suzuki K; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
  • Yamada K; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
  • Watanabe S; Department of Pediatric Neurology, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Yokochi K; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
  • Wakamatsu N; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
Am J Med Genet A ; 173(8): 2201-2209, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28599099
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trissomia / Disrafismo Espinal / Síndrome de Cri-du-Chat / Defeitos do Tubo Neural Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA 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: Trissomia / Disrafismo Espinal / Síndrome de Cri-du-Chat / Defeitos do Tubo Neural Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão