Art

J-GLOBAL ID：201802216631055961   Reference number：18A2014127

Familial campomelic dysplasia due to maternal germinal mosaicism

母親の性腺モザイクによる家族性屈曲肢異形成症

Author (8)： Higeta Daisuke (Department of Obstetrics and Gynecology, Gunma University, Graduate School of Medicine, Gunma, Japan) ,  Higeta Daisuke (Department of Obstetrics and Gynecology, Japan Community Health Care Organization, Gunma Chuo Hospital, Gunma, Japan) ,  Yamaguchi Rie (Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan) ,  Takagi Takeshi (Department of Obstetrics, Gunma Children’s Medical Center, Gunma, Japan) ,  Nishimura Gen (Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan) ,  Sameshima Kiyoko (Department of Pediatrics, Minamikyusyu National Hospital, Kagoshima, Japan) ,  Saito Kayoko (Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan) ,  Minegishi Takashi (Department of Obstetrics and Gynecology, Gunma University, Graduate School of Medicine, Gunma, Japan)
Material： Congenital Anomalies (Web)  (Congenit Anom (Web))
Volume： 58  Issue： 6  Page： 194-197  Publication year： 2018 
JST Material Number： U0506A  ISSN： 1741-4520  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *mother ,...
Semi thesaurus term： *Campomelic Dysplasia ,...

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Author keywords (5)： campomelic dysplasia ,  familial ,  genetic counseling ,  mosaicism ,  SOX9 transcription factor

JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Clinical medicine on musculoskeletal system in general  (GG01030M) ,  Genetic variation  (EC01030Y)

Terms in the title (5)： 母親 ,  性腺 ,  モザイク ,  家族 ,  屈曲肢異形成症