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New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.
Aoyama, Ken-Ichi; Kimura, Minoru; Yamazaki, Hiroshi; Uchibori, Masahiro; Kojima, Rena; Osawa, Yuko; Hosomichi, Kazuyoshi; Ota, Yoshihide; Tanaka, Masayuki; Yamada, Shiro; Nishimura, Gen.
Affiliation
  • Aoyama KI; Department of Oral and Maxillofacial Surgery, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan. subarumusashi@yahoo.co.jp.
  • Kimura M; Department of Molecular Life Science, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan. subarumusashi@yahoo.co.jp.
  • Yamazaki H; Department of Oral and Maxillofacial Surgery, Tokai University Oiso Hospital, 21-1 Gakkyo, Oiso, Kanagawa, 259-0114, Japan. subarumusashi@yahoo.co.jp.
  • Uchibori M; Department of Molecular Life Science, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
  • Kojima R; Department of Oral and Maxillofacial Surgery, Tokai University Oiso Hospital, 21-1 Gakkyo, Oiso, Kanagawa, 259-0114, Japan.
  • Osawa Y; Department of Oral and Maxillofacial Surgery, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
  • Hosomichi K; Department of Molecular Life Science, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
  • Ota Y; Department of Oral and Maxillofacial Surgery, Tokai University Oiso Hospital, 21-1 Gakkyo, Oiso, Kanagawa, 259-0114, Japan.
  • Tanaka M; Department of Oral and Maxillofacial Surgery, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
  • Yamada S; Department of Molecular Life Science, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
  • Nishimura G; Department of Bioinformatics and Genomics, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8640, Japan.
BMC Med Genet ; 20(1): 126, 2019 07 16.
Article in En | MEDLINE | ID: mdl-31311520
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Genetic Variation / Genetic Predisposition to Disease / Dwarfism / Fetal Growth Retardation / Microcephaly / Antigens Type of study: Prognostic_studies Limits: Female / Humans / Middle aged Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Japan Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Genetic Variation / Genetic Predisposition to Disease / Dwarfism / Fetal Growth Retardation / Microcephaly / Antigens Type of study: Prognostic_studies Limits: Female / Humans / Middle aged Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Japan Country of publication: United kingdom