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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
Watanabe, Y; Sharwood, E; Goodwin, B; Creech, M K; Hassan, H Y; Netea, M G; Jaeger, M; Dumitrescu, A; Refetoff, S; Huynh, T; Weiss, R E.
Afiliación
  • Watanabe Y; Department of Medicine, University of Miami Miller School of Medicine, 1120 NW 14th St., Room 310F, Miami, FL, 33136, USA.
  • Sharwood E; Department of Endocrinology and Diabetes, Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
  • Goodwin B; Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
  • Creech MK; Department of Endocrinology and Diabetes, Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
  • Hassan HY; Medical Imaging and Nuclear Medicine, Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
  • Netea MG; Department of Medicine, University of Miami Miller School of Medicine, 1120 NW 14th St., Room 310F, Miami, FL, 33136, USA.
  • Jaeger M; Banoon ART & Cytogenetics Centre, Bahrain Defence Force Hospital, West Riffa, Kingdom of Bahrain.
  • Dumitrescu A; Department of Internal Medicine, Radboud University Medical Cente, Nijmegen, The Netherlands.
  • Refetoff S; Department of Internal Medicine, Radboud University Medical Cente, Nijmegen, The Netherlands.
  • Huynh T; Departments of Medicine, The University of Chicago, Chicago, IL, USA.
  • Weiss RE; Departments of Medicine, Pediatrics and Genetics, The University of Chicago, Chicago, IL, USA.
BMC Med Genet ; 19(1): 69, 2018 05 02.
Article en En | MEDLINE | ID: mdl-29720101
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tiroglobulina / Mutación Missense / Hipotiroidismo Congénito / Secuenciación del Exoma Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn País/Región como asunto: Africa / Oceania Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tiroglobulina / Mutación Missense / Hipotiroidismo Congénito / Secuenciación del Exoma Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn País/Región como asunto: Africa / Oceania Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos