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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-29681101
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Texto completo: 1 Colección: 01-internacional Asunto principal: Síndrome de Waardenburg / Enfermedades Desmielinizantes / Factores de Transcripción SOXE / Estudios de Asociación Genética / Enfermedad de Hirschsprung / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Asunto principal: Síndrome de Waardenburg / Enfermedades Desmielinizantes / Factores de Transcripción SOXE / Estudios de Asociación Genética / Enfermedad de Hirschsprung / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Japón