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A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis

Mutations in the gene LRP2 have recently been identified as the cause of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) syndrome. More than two dozen cases, the first reported more than 30 years ago by Holmes, have been published. Summarizing available information, we highlight the cardinal...

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Detalhes bibliográficos
Main Authors: Pober, Barbara R., Longoni, Mauro, Noonan, Kristin M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2882234/
https://ncbi.nlm.nih.gov/pubmed/19089858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdra.20534
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