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Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Cameron-Christie, Sophia R; Wells, Constance F; Simon, Marleen; Wessels, Marja; Tang, Candy Z N; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E; Cassina, Matteo; Ludwig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M; Jenkins, Zandra A; Robertson, Stephen P.
Afiliação
  • Cameron-Christie SR; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
  • Wells CF; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand; Paris Diderot University, Sorbonne Paris Cité, Faculty of Medicine, Paris 75007, France; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Réf
  • Simon M; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CE, the Netherlands.
  • Wessels M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CE, the Netherlands.
  • Tang CZN; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
  • Wei W; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
  • Takei R; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
  • Aarts-Tesselaar C; Amphia Hospital, 4819 EV Breda, the Netherlands.
  • Sandaradura S; Department of Clinical Genetics Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Sillence DO; Department of Clinical Genetics Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia.
  • Cordier MP; Clinical Genetics, Hôpital Femme Mère Enfant, Hôpitaux de Lyon, Lyon 69677, France.
  • Veenstra-Knol HE; Department of Medical Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, the Netherlands.
  • Cassina M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova 35128, Italy.
  • Ludwig K; Cardiovascular Pathology Unit, University Hospital of Padova, Padova 35128, Italy.
  • Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova 35128, Italy.
  • Bahlo M; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, University of Melbourne, Melbourne, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Markie DM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
  • Jenkins ZA; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
  • Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand. Electronic address: stephen.robertson@otago.ac.nz.
Am J Hum Genet ; 102(6): 1115-1125, 2018 06 07.
Article em En | MEDLINE | ID: mdl-29805041
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Escoliose / Sinostose / Vértebras Torácicas / Anormalidades Múltiplas / Doenças Musculoesqueléticas / Cadeias Pesadas de Miosina / Genes Recessivos / Vértebras Lombares / Mutação Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Nova Zelândia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Escoliose / Sinostose / Vértebras Torácicas / Anormalidades Múltiplas / Doenças Musculoesqueléticas / Cadeias Pesadas de Miosina / Genes Recessivos / Vértebras Lombares / Mutação Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Nova Zelândia