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Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism
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- Published on: 24 November 2014
- Published on: 24 November 2014PLK4: A novel candidate for primordial dwarfismShow More
Letter to Editor Shaheen et al. 1 recently reported a homozygous 5 bps deletion mutation (c.1299_1303delTAAG; p.Phe433Leufs*6) in the human polo-like kinase 4 (PLK4,MIM 605031) gene and proposed that it is a compelling candidate for primordial dwarfism (PD). Autozygosity mapping and LOD score, method of estimating linkage distances, are adopted for the novel locus identification. Candidate gene hunting among 144 in the r...
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