Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

@inproceedings{Ma2015WholeES,
  title={Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets},
  author={Sara L. Ma and Virginia Vega-Warner and Christopher E. Gillies and Matthew G. Sampson and Vijay Kher and Sidharth Kumar Sethi and Edgar A. Otto and Anthony W. I. Lo},
  booktitle={PloS one},
  year={2015}
}
OBJECTIVE Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this study were to perform molecular diagnostics for four patients with HR of Indian origin (two independent families) and to describe their clinical features. METHODS We performed whole exome sequencing (WES) for the affected mother of… CONTINUE READING
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