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Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).
Frederiksen, Anja L; Larsen, Martin J; Brusgaard, Klaus; Novack, Deborah V; Knudsen, Peter Juel Thiis; Schrøder, Henrik Daa; Qiu, Weimin; Eckhardt, Christina; McAlister, William H; Kassem, Moustapha; Mumm, Steven; Frost, Morten; Whyte, Michael P.
Afiliação
  • Frederiksen AL; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Larsen MJ; Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.
  • Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Novack DV; Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.
  • Knudsen PJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Schrøder HD; Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.
  • Qiu W; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA.
  • Eckhardt C; Institute of Forensic Medicine, University of Southern Denmark, Odense, Denmark.
  • McAlister WH; Department of Pathology, Odense University Hospital, Odense, Denmark.
  • Kassem M; Molecular Endocrinology Laboratory (KMEB), Department of Endocrinology, Odense University Hospital and University of Southern Denmark, Odense, Denmark.
  • Mumm S; Department of Pediatrics, Odense University Hospital, Odense, Denmark.
  • Frost M; Department of Pediatric Radiology, Mallinckrodt Institute of Radiology, Washington University School of Medicine at St. Louis Children's Hospital, St. Louis, MO, USA.
  • Whyte MP; Molecular Endocrinology Laboratory (KMEB), Department of Endocrinology, Odense University Hospital and University of Southern Denmark, Odense, Denmark.
J Bone Miner Res ; 31(1): 163-72, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26178921
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose / Transdução de Sinais / Mutação de Sentido Incorreto / Fator de Transcrição RelA / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Newborn Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Dinamarca
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose / Transdução de Sinais / Mutação de Sentido Incorreto / Fator de Transcrição RelA / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Newborn Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Dinamarca