Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations-Reference-Cited by-同舟云学术

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Published:2013-11-27 Issue:7 Volume:22 Page:881-887
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jones Gabriela E,Ostergaard Pia,Moore Anthony T,Connell Fiona C,Williams Denise,Quarrell Oliver,Brady Angela F,Spier Isabel,Hazan Filiz,Moldovan Oana,Wieczorek Dagmar,Mikat Barbara,Petit Florence,Coubes Christine,Saul Robert A,Brice Glen,Gordon Kristiana,Jeffery Steve,Mortimer Peter S,Vasudevan Pradeep C,Mansour Sahar

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013263.pdf

Reference28 articles.

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2. Ostergaard P, Simpson MA, Mendola A et al: Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphoedema and chorioretinopathy. Am J Hum Genet 2012; 90: 56–62.

3. Connell FC, Gordon K, Brice G et al: The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. Clin Genet 2013; 84: 303–314.

4. Baraitser M : Microcephaly; in The genetics of Neurological Disorders 2nd edn. Oxford: Oxford Medical Publications, 1990; vol 18: pp 26–33.

5. Woods CG, Parker A : Investigating microcephaly. Arch Dis Child 2013; 0: 1–7.

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