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Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius syndrome

OBJECTIVE: To improve diagnostic assessment in Moebius syndrome by (1) creating more selective diagnostic subgroups and (2) conducting genetic evaluation in a large patient cohort. DESIGN: Prospective, observational study. PARTICIPANTS: Attendees of 3 consecutive Moebius Syndrome conferences held in...

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Detalhes bibliográficos
Main Authors: MacKinnon, Sarah, Oystreck, Darren T., Andrews, Caroline, Chan, Wai-Man, Hunter, David G., Engle, Elizabeth C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4082742/
https://ncbi.nlm.nih.gov/pubmed/24612975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2014.01.006
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