Associated Papers
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Neitzel H et al.
Human Genetics, 2022
Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.
Martín-Rivada Á et al.
Hormone Research in Paediatrics, 2020
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
Chow YP et al.
Orphanet Journal of Rare Diseases, 2017
28222800 (PubMed )
Supplement: 13023_2017_575_MOESM2_ESM.xlsx › Table_S1
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.
Tsutsumi M et al.
European Journal of Human Genetics : Ejhg, 2016
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