Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia

@inproceedings{Alawbathani2018LateDO,
  title={Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia},
  author={Salem Alawbathani and Amit Kawalia and Mert Karakaya and Janine Altmueller and Peter N{\"u}rnberg and Sebahattin Çirak},
  booktitle={Cold Spring Harbor molecular case studies},
  year={2018}
}
Rare diseases are often misdiagnosed or receive a delayed diagnosis; thus, unfortunately, affected individuals may not receive optimal medical management. Here, we report a case of two siblings with a severe phenotype of progressive pseudorheumatoid dysplasia (PPD). Their onset of symptoms began at the age of 3 yr. Both were neglected in the past, and the… CONTINUE READING