Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy-Reference-Cited by-同舟云学术

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

Published:2016-09-21 Issue:12 Volume:24 Page:1702-1706
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Tsutsumi Makiko,Yokoi Setsuri,Miya Fuyuki,Miyata Masafumi,Kato Mitsuhiro,Okamoto Nobuhiko,Tsunoda Tatsuhiko,Yamasaki Mami,Kanemura Yonehiro,Kosaki Kenjiro,Saitoh Shinji,Kurahashi Hiroki

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016119.pdf

Reference21 articles.

1. Martin CA, Ahmad I, Klingseisen A et al: Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet 2014; 46: 1283–1292.

2. Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS : Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. J Med Genet 2014; 51: 814–816.

3. Yokoi S, Ishihara N, Miya F et al: TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Sci Rep 2015; 5: 15165.

4. Tsutsumi M, Kogo H, Kowa-Sugiyama H et al: Characterization of a novel mouse gene encoding an SYCP3-like protein that relocalizes from the XY body to the nucleolus during prophase of male meiosis I. Biol Reprod 2011; 85: 165–171.

5. Marchler-Bauer A, Derbyshire MK, Gonzales NR et al: CDD: NCBI's conserved domain database. Nucleic Acids Res 2015; 43: D222–D226.

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