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Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Seiersen, Kasper V; Henriksen, Tine B; Andelius, Ted C K; Andreasen, Lotte; Diemer, Tue; Gudmundsdottir, Gudrun; Vogel, Ida; Gjørup, Vibike; Gregersen, Pernille A.
Afiliação
  • Seiersen KV; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark. Electronic address: kvs@clin.au.dk.
  • Henriksen TB; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.
  • Andelius TCK; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • Andreasen L; Department of Clinical Genetics, Aarhus University Hospital, Denmark.
  • Diemer T; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
  • Gudmundsdottir G; Department of Neurosurgery, Aarhus University Hospital, Denmark.
  • Vogel I; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Denmark; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.
  • Gjørup V; Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark.
  • Gregersen PA; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Denmark; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Eur J Med Genet ; 67: 104894, 2024 Feb.
Article em En | MEDLINE | ID: mdl-38070826
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Acondroplasia Limite: Female / Humans / Infant País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Acondroplasia Limite: Female / Humans / Infant País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article