Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.

@article{Shaheen2014MutationIP,
  title={Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.},
  author={Ranad Shaheen and Saeed Al Tala and Agaadir Almoisheer and Fowzan S Alkuraya},
  journal={Journal of medical genetics},
  year={2014},
  volume={51 12},
  pages={814-6}
}
BACKGROUND Primordial dwarfism (PD) is a heterogeneous clinical entity characterised by severe prenatal and postnatal growth deficiency. Despite the recent wave of disease gene discovery, the causal mutations in many PD patients remain unknown. OBJECTIVE To describe a PD family that maps to a novel locus. METHODS Clinical, imaging and laboratory phenotyping of a new family with PD followed by autozygosity mapping, linkage analysis and candidate gene sequencing. RESULTS We describe a… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 2 times over the past 90 days. VIEW TWEETS