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A new acro-osteolysis syndrome caused by duplications including PTHLH.
Gray, Mary J; van Kogelenberg, Margriet; Beddow, Rachel; Morgan, Tim; Wordsworth, Paul; Shears, Deborah J; Robertson, Stephen P; Hurst, Jane A.
Afiliación
  • Gray MJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • van Kogelenberg M; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Beddow R; Cytogenetics Laboratory, Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand.
  • Morgan T; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Wordsworth P; Nuffield Orthopaedic Centre, Department of Rheumatology, Oxford, UK.
  • Shears DJ; Oxford Regional Genetics Service, The Churchill Hospital, Oxford, UK.
  • Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Hurst JA; Department of Genetics, The Hospital for Sick Children, London, UK.
J Hum Genet ; 59(9): 484-7, 2014 Sep.
Article en En | MEDLINE | ID: mdl-25007883
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Texto completo: 1 Colección: 01-internacional Asunto principal: Duplicación de Gen / Acroosteólisis / Proteína Relacionada con la Hormona Paratiroidea / Variaciones en el Número de Copia de ADN / Mutación Límite: Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Nueva Zelanda
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Duplicación de Gen / Acroosteólisis / Proteína Relacionada con la Hormona Paratiroidea / Variaciones en el Número de Copia de ADN / Mutación Límite: Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Nueva Zelanda