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Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.
Takano, Takako; Ota, Hideomi; Ohishi, Hajime; Hata, Kenichiro; Furukawa, Rieko; Nakabayashi, Kazuhiko.
Afiliação
  • Takano T; Department of Child Health, Tokyo Kasei University, Tokyo, Japan; Department of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Tokyo, Japan. Electronic address: takano@tokyo-kasei.ac.jp.
  • Ota H; Department of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Tokyo, Japan.
  • Ohishi H; Department of Obstetrics and Gynecology, Center Hospital of the National Center for Global Health and Medicine, Tokyo, Japan.
  • Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Furukawa R; Department of Pediatric Medical Imaging, Jichi Children's Medical Center, Tochigi, Japan.
  • Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan. Electronic address: nakabaya-k@ncchd.go.jp.
Eur J Med Genet ; 64(11): 104332, 2021 Nov.
Article em En | MEDLINE | ID: mdl-34481091
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento Sexual / Translocação Genética / Cromossomos Humanos Par 17 / Displasia Campomélica Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Eur J Med Genet Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento Sexual / Translocação Genética / Cromossomos Humanos Par 17 / Displasia Campomélica Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Eur J Med Genet Ano de publicação: 2021 Tipo de documento: Article