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Clinical characterisation and molecular analysis of Wagner syndrome

AIM: To detail the clinical findings in a British family with molecularly characterised Wagner syndrome. BACKGROUND: Only in the last year has the specific genetic defect in Wagner syndrome been identified, and the background literature of the molecular genetics is outlined. Clinical and laboratory...

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Detalhes bibliográficos
Main Authors: Meredith, Sarah P, Richards, Allan J, Flanagan, Declan W, Scott, John D, Poulson, Arabella V, Snead, Martin P
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1954774/
https://ncbi.nlm.nih.gov/pubmed/17035272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2006.104406
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