A novel sequence variant in SFRP4 causing Pyle disease

@article{Galada2017ANS,
  title={A novel sequence variant in SFRP4 causing Pyle disease},
  author={Chelna Galada and Hitesh Hasmukhlal Shah and Anju Shukla and Katta Mohan Girisha},
  journal={Journal of Human Genetics},
  year={2017},
  volume={62},
  pages={575-576}
}
Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel homozygous nonsense variant, c.183C>G (p… CONTINUE READING