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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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    PLK4: A novel candidate for primordial dwarfism

    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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    Conflict of Interest:
    None declared.