Autosomal recessive microcephaly and chorioretinopathy
Definition:
References:
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[1]. Carol-Anne Martin, et al. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014 Dec;46(12):1283-1292. [Content Brief]
[2]. Erik G Puffenberger, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. [Content Brief]
[3]. Makiko Tsutsumi, et al. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet. 2016 Dec;24(12):1702-1706. [Content Brief]
[4]. Ranad Shaheen, et al. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. J Med Genet. 2014 Dec;51(12):814-6. [Content Brief]
[5]. Sophie Scheidecker, et al. Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet. 2015 Apr 2;96(4):666-74. [Content Brief]
[6]. V A McKusick, et al. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol. 1966 May;75(5):597-600. [Content Brief]
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