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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.
Shimizu, Hitomi; Watanabe, Satoshi; Kinoshita, Akira; Mishima, Hiroyuki; Nishimura, Gen; Moriuchi, Hiroyuki; Yoshiura, Koh-Ichiro; Dateki, Sumito.
Affiliation
  • Shimizu H; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Watanabe S; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Kinoshita A; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Mishima H; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Nishimura G; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Moriuchi H; Center for Intractable Disease, Saitama Medical University Hospital, Saitama, Japan.
  • Yoshiura KI; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Dateki S; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
J Hum Genet ; 64(5): 467-471, 2019 May.
Article in En | MEDLINE | ID: mdl-30796325
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Scoliosis / Synostosis / Thoracic Vertebrae / Abnormalities, Multiple / Biomarkers, Tumor / Frameshift Mutation / Musculoskeletal Diseases / Homozygote / Lumbar Vertebrae Type of study: Diagnostic_studies Limits: Humans / Infant / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Japan
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Scoliosis / Synostosis / Thoracic Vertebrae / Abnormalities, Multiple / Biomarkers, Tumor / Frameshift Mutation / Musculoskeletal Diseases / Homozygote / Lumbar Vertebrae Type of study: Diagnostic_studies Limits: Humans / Infant / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Japan