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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Bibliografiska uppgifter
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer-Verlag 2011
Ämnen:
Original Investigation
Länkar: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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