BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

BMP4 loss-of-function mutations and deletions have been shown to be associated with ocular, digital, and brain anomalies, but due to the paucity of these reports, the full phenotypic spectrum of human BMP4 mutations is not clear. We screened 133 patients with a variety of ocular disorders for BMP4 c...

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Détails bibliographiques
Auteurs principaux: Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Format: Artigo
Langue:Inglês
Publié: Springer-Verlag 2011
Sujets:
Original Investigation
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3178759/
https://ncbi.nlm.nih.gov/pubmed/21340693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-0968-y
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