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A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Yanagi, Kumiko; Morimoto, Noriko; Iso, Manami; Abe, Yukimi; Okamura, Kohji; Nakamura, Tomoo; Matsubara, Yoichi; Kaname, Tadashi.
  • Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Setagaya, Tokyo, Japan. yanagi-kmk@ncchd.go.jp.
  • Morimoto N; Division of Otolaryngology, National Center for Child Health and Development, Setagaya, Tokyo, Japan.
  • Iso M; Department of Pharmacology, National Center for Child Health and Development, Setagaya, Tokyo, Japan.
  • Abe Y; Department of Genome Medicine, National Center for Child Health and Development, Setagaya, Tokyo, Japan.
  • Okamura K; Department of Systems BioMedicine, National Center for Child Health and Development, Setagaya, Tokyo, Japan.
  • Nakamura T; Division of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development, Setagaya, Tokyo, Japan.
  • Matsubara Y; National Center for Child Health and Development, Setagaya, Tokyo, Japan.
  • Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Setagaya, Tokyo, Japan. kaname-t@ncchd.go.jp.
J Hum Genet ; 66(10): 1029-1034, 2021 Oct.
Article en En | MEDLINE | ID: mdl-33723370
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Subunidades alfa de la Proteína de Unión al GTP Gi-Go / Oído / Enfermedades del Oído / Mandíbula / Micrognatismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Subunidades alfa de la Proteína de Unión al GTP Gi-Go / Oído / Enfermedades del Oído / Mandíbula / Micrognatismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Año: 2021 Tipo del documento: Article