PITX2 and FOXC1 spectrum of mutations in ocular syndromes

Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental conditions affecting anterior ocular structures and associated with an increased risk for glaucoma. Various systemic anomalies are often observed in ASD conditions such as Axenfeld-Rieger syndrome (ARS) and De Hauwere sy...

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Detalhes bibliográficos
Main Authors: Reis, Linda M, Tyler, Rebecca C, Volkmann Kloss, Bethany A, Schilter, Kala F, Levin, Alex V, Lowry, R Brian, Zwijnenburg, Petra J G, Stroh, Eliza, Broeckel, Ulrich, Murray, Jeffrey C, Semina, Elena V
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499749/
https://ncbi.nlm.nih.gov/pubmed/22569110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.80
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