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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer-Verlag 2011
Gaiak:
Original Investigation
Sarrera elektronikoa: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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