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J-GLOBAL ID：202002254659391189   Reference number：20A0536721

Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome

Robinow症候群の胎児におけるROR2遺伝子の全エクソーム配列決定複合ヘテロ接合変異体【JST・京大機械翻訳】

Author (8)： Yang Kai (Department of Obstetrics and Gynecology, Peking University International Hospital, Beijing, China) ,  Zhu Jianjiang (Department of Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China) ,  Tan Ya (Department of Obstetrics and Gynecology, Peking University International Hospital, Beijing, China) ,  Sun Xiaofei (Department of Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China) ,  Zhao Huawei (Department of Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China) ,  Tang Guodong (Department of Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China) ,  Zhang Dongliang (Department of Orthodontics, School of Stomatology, Capital Medical University, Beijing, China) ,  Qi Hong (Department of Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China)
Material： Journal of Clinical Laboratory Analysis
Volume： 34  Issue： 2  Page： e23074  Publication year： 2020 
JST Material Number： W2635A  ISSN： 0887-8013  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： BACKGROUND: Autosomal recessiv...

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Thesaurus term： *heterojunction ,  ultrasonic wave ,  multiple abnormality ,  immunohistochemistry ,  pathogenicity ,  recessive ,  prenatal diagnosis ,  autosome ,  Western blotting ,  histochemistry ,  reliability(property) ,  *heredity ,  *gene ,  characterization ,  *fetus

Author keywords (5)： immunohistochemistry ,  Robinow Syndrome ,  ROR2 gene ,  western blotting ,  whole-exome sequencing

JST classification (5)： Cardiovascular system diseases  (GJ03000C) ,  Chemistry,biochemistry and pathology of tumors(=neoplasms)  (GE02030N) ,  Genetic variation  (EC01030Y) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Urologenital system diagnosis  (GM02000E)

Terms in the title (7)： Robinow症候群 ,  胎児 ,  Ror2 ,  遺伝子 ,  全エクソーム配列決定 ,  ヘテロ接合 ,  変異体