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A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.
Hendrickx, Gretl; Boudin, Eveline; Steenackers, Ellen; Collet, Corinne; Mortier, Geert R; Geneviève, David; Van Hul, Wim.
Afiliação
  • Hendrickx G; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Boudin E; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium.
  • Steenackers E; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium.
  • Collet C; INSERM U1132 and Université de Paris, Reference Centre for Rare Bone Diseases, Hospital Robert Debré, F-75010 Paris, France.
  • Mortier GR; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium; Center for Human Genetics, University Hospital Leuven, Leuven, Belgiu
  • Geneviève D; Montpellier University and INSERM U1183, Montpellier, France; Competence Center for Bone Diseases, Clinical Genetics Unit, Montpellier University Hospital, Montpellier, France.
  • Van Hul W; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium. Electronic address: wim.vanhul@uantwerpen.be.
Bone ; 167: 116633, 2023 02.
Article em En | MEDLINE | ID: mdl-36436818
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Anormalidades Craniofaciais Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Anormalidades Craniofaciais Idioma: En Ano de publicação: 2023 Tipo de documento: Article