New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-08397-w.pdf
Reference23 articles.
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2. Fantes, J. et al. Mutations in SOX2 cause anophthalmia. Nat Genet. 33, 461–463 (2003).
3. Ragge, N. K. et al. SOX2 anophthalmia syndrome. Am J Med Genet A. 135, 1–7 (2005).
4. Bakrania, P. et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet. 82, 304–319 (2008).
5. Wyatt, A. W., Osborne, R. J., Stewart, H. & Ragge, N. K. Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies. Hum Mutat. 31, 781–7 (2010).
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