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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Costantini, Alice; Valta, Helena; Baratang, Nissan Vida; Yap, Patrick; Bertola, Débora R; Yamamoto, Guilherme L; Kim, Chong A; Chen, Jiani; Wierenga, Klaas J; Fanning, Elizabeth A; Escobar, Luis; McWalter, Kirsty; McLaughlin, Heather; Willaert, Rebecca; Begtrup, Amber; Alm, Jessica J; Reinhardt, Dieter P; Mäkitie, Outi; Campeau, Philippe M.
Afiliação
  • Costantini A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm 171 76, Sweden.
  • Valta H; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland.
  • Baratang NV; CHU Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Yap P; Genetic Health Service New Zealand (Northern Hub), Auckland 1023, New Zealand.
  • Bertola DR; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco do Instituto de Biociências- Universidade de São Paulo, São Paulo, SP 05508-090, Brazil; Clinical Genetics Unit, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Bra
  • Yamamoto GL; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco do Instituto de Biociências- Universidade de São Paulo, São Paulo, SP 05508-090, Brazil; Clinical Genetics Unit, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Bra
  • Kim CA; Clinical Genetics Unit, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Brazil.
  • Chen J; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
  • Wierenga KJ; Mayo Clinic Florida, Jacksonville, FL 32224, USA.
  • Fanning EA; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Escobar L; Payton Manning Children's Hospital at St. Vincent Health, Indianapolis, IN 46260, USA.
  • McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • McLaughlin H; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Alm JJ; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm 171 76, Sweden.
  • Reinhardt DP; Department of Anatomy and Cell Biology, and Faculty of Dentistry, McGill University, Montreal, QC H3A 0C7, Canada.
  • Mäkitie O; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm 171 76, Sweden; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland; Department of Clinical Genetics, Karolinska University Hospital, Sto
  • Campeau PM; CHU Sainte Justine Research Centre and Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.
Bone ; 121: 163-171, 2019 04.
Article em En | MEDLINE | ID: mdl-30599297
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Fibronectinas Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Fibronectinas Idioma: En Ano de publicação: 2019 Tipo de documento: Article