Art

J-GLOBAL ID：201902229021352323   Reference number：19A1267332

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia

Desbuquois異形成症に類似した新生児短下肢異形成症に対する新規遺伝子(FAM20Bコード化グリコサミノグリカン・キシロシルキナーゼ)【JST・京大機械翻訳】

Author (9)： Kuroda Yukiko (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Murakami Hiroaki (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Enomoto Yumi (Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Tsurusaki Yoshinori (Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Takahashi Kazumi (Department of Clinical Genetics, Tokai University Hospital, Isehara, Kanagawa, Japan) ,  Mitsuzuka Kanako (Department of Obstetrics and Gynecology, Tokai University School of Medicine, Isehara, Kanagawa, Japan) ,  Ishimoto Hitoshi (Department of Obstetrics and Gynecology, Tokai University School of Medicine, Isehara, Kanagawa, Japan) ,  Nishimura Gen (Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan) ,  Kurosawa Kenji (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan)
Material： Clinical Genetics  (Clin Genet)
Volume： 95  Issue： 6  Page： 713-717  Publication year： 2019 
JST Material Number： E0526B  ISSN： 0009-9163  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Desbuquois dysplasia (DBQD) is...

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Thesaurus term： *glycosaminoglycan ,  heterojunction ,  autosome ,  recessive ,  Genotype ,  Respiratory Insufficiency ,  Phenotype ,  nucleotide ,  *neonate ,  height (body) ,  *gene ,  Live Birth ,  girl ,  xylosyltransferase ,  *Metaplasia

Author keywords (6)： Desbuquois dysplasia ,  FAM20B ,  glycosaminoglycan xylosylkinase ,  short limb dysplasia ,  skeletal disorders ,  XYLT1

JST classification (2)： Genetic variation  (EC01030Y) ,  Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (5)： 異形成 ,  類似 ,  新生児 ,  下肢 ,  遺伝子