Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep26564.pdf
Reference22 articles.
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3. Jarmas, A. L., Weaver, D. D., Ellis, F. D. & Davis, A. Microcephaly, microphthalmia, falciform retinal folds and blindness. A new syndrome. Am. J. Dis. Child. 1960 135, 930–933 (1981).
4. Crowe, C. A. & Dickerman, L. H. A genetic association between microcephaly and lymphedema. Am. J. Med. Genet. 24, 131–135 (1986).
5. Ostergaard, P. et al. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am. J. Hum. Genet. 90, 356–362 (2012).
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