NEW FINDINGS FROM MULTIMODAL FUNDUS IMAGING OVER 3 YEARS OF A PATIENT WITH MICROCEPHALY, CHORIORETINOPATHY, AND KIF11 MUTATION
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Ophthalmology,General Medicine
Reference9 articles.
1. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy;Ostergaard;Am J Hum Genet,2012
2. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations;Robitaille;JAMA Ophthalmol,2014
3. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome;Schlogel;Orphanet J Rare Dis,2015
4. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations;Jones;Eur J Hum Genet,2014
5. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature;Mirzaa;Am J Med Genet A,2014
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1. A novel KIF11 missense mutation causing Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR): A case report and literature review;Biomedical Research and Therapy;2024-06-30
2. Inter-organelle interactions between the ER and mitotic spindle facilitates Zika protease cleavage of human Kinesin-5 and results in mitotic defects;iScience;2021-05
3. Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly;American Journal of Ophthalmology;2019-11
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