KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv201810.pdf
Reference12 articles.
1. Ostergaard, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A et al. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet 2012; 90: 356–362.
2. Jones, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O et al. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet 2014; 22: 881–887.
3. Mears K, Bakall B, Harney LA, Penticoff JA, Stone EM . Autosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in KIF11. JAMA Ophthalmol 2015; 133: 720–721.
4. Mirzaa, Enyedi L, Parsons G, Collins S, Medne L, Adams C et al. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. Am J Med Genet A 2014; 164A: 2879–2886.
5. Schlogel, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ et al. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. Orphanet J Rare Dis 2015; 10: 52.
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