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Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Minatogawa, Mari; Miyake, Noriko; Tsukahara, Yoshinori; Tanabe, Yuko; Uchiyama, Takamichi; Matsumoto, Naomichi; Kosho, Tomoki.
Affiliation
  • Minatogawa M; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Miyake N; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Tsukahara Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Tanabe Y; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
  • Uchiyama T; Department of Radiology, Shinshu University School of Medicine, Matsumoto, Japan.
  • Matsumoto N; Department of Pediatrics, Kansai Medical University, Hirakata, Japan.
  • Kosho T; Department of Pediatrics, Kansai Medical University, Hirakata, Japan.
Am J Med Genet A ; 188(1): 350-356, 2022 01.
Article in En | MEDLINE | ID: mdl-34558790
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteosclerosis / Abnormalities, Multiple / Carpal Bones / Ehlers-Danlos Syndrome Type of study: Diagnostic_studies Limits: Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Japan
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteosclerosis / Abnormalities, Multiple / Carpal Bones / Ehlers-Danlos Syndrome Type of study: Diagnostic_studies Limits: Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Japan