Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly-Reference-Cited by-同舟云学术

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Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly

Published:2018-09-04 Issue:12 Volume:26 Page:1819-1823
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Karjosukarso Dyah W.,Cremers Frans P. M.,van Nouhuys C. Erik,Collin Rob W. J.

Funder

Radboud Universitair Medisch Centrum (Radboudumc)

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0243-y.pdf

Reference16 articles.

1. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68:578–94.

2. Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (London). 2015;29:1–14.

3. van Nouhuys CE. Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1981;217:55–67.

4. Robitaille JM, Gillett RM, LeBlanc MA, et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. JAMA Ophthalmol. 2014;132:1393–9.

5. Hu H, Xiao X, Li S, Jia X, Guo X, Zhang Q. KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. Br J Ophthalmol. 2016;100:278–83.

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