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A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.
Akutsu, Yuko; Shirai, Kentaro; Takei, Akira; Goto, Yudai; Aoyama, Tomohiro; Watanabe, Akimitu; Imamura, Masatoshi; Enokizono, Takashi; Ohto, Tatsuyuki; Hori, Tetsuo; Suzuki, Keiko; Hayashi, Masaharu; Masumoto, Kouji; Inoue, Ken.
Affiliation
  • Akutsu Y; Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Shirai K; Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Takei A; Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Goto Y; Department of Neonatology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Aoyama T; Department of Pediatric Surgery, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Watanabe A; Department of Pediatric Surgery, University of Tsukuba, Tsukuba, Ibaraki, Japan.
  • Imamura M; Department of Pediatric Surgery, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Enokizono T; Department of Pediatric Surgery, University of Tsukuba, Tsukuba, Ibaraki, Japan.
  • Ohto T; Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Hori T; Department of Neonatology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Suzuki K; Department of Pediatrics, University of Tsukuba, Tsukuba, Ibaraki, Japan.
  • Hayashi M; Department of Pediatrics, University of Tsukuba, Tsukuba, Ibaraki, Japan.
  • Masumoto K; Department of Pediatric Surgery, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
  • Inoue K; Department of Pathology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan.
Am J Med Genet A ; 176(5): 1195-1199, 2018 05.
Article in En | MEDLINE | ID: mdl-29681101
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Waardenburg Syndrome / Demyelinating Diseases / SOXE Transcription Factors / Genetic Association Studies / Hirschsprung Disease / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Japan Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Waardenburg Syndrome / Demyelinating Diseases / SOXE Transcription Factors / Genetic Association Studies / Hirschsprung Disease / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Japan Country of publication: United States