Holt Oram syndrome: a registry-based study in Europe

BACKGROUND: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. METHODS: The...

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Publicado en:Orphanet J Rare Dis
Main Authors: Barisic, Ingeborg, Boban, Ljubica, Greenlees, Ruth, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke EH, Braz, Paula, Budd, Judith LS, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Nelen, Vera, Pierini, Anna, Queisser-Wahrendorf, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Tucker, David, Verellen-Dumoulin, Christine, Dolk, Helen
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4245183/
https://ncbi.nlm.nih.gov/pubmed/25344219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0156-y
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