Phenotypic evolution of UNC80 loss of function.

@article{Valkanas2016PhenotypicEO,
  title={Phenotypic evolution of UNC80 loss of function.},
  author={Elise Valkanas and Katherine Schaffer and Christopher Perry Dunham and Valerie V. B. Maduro and Christ{\`e}le du Souich and Rosemarie Rupps and David R Adams and Alireza Baradaran-Heravi and Elise D Flynn and May Christine V Malicdan and William A Gahl and Camilo Gonz{\'a}lez Toro and Cornelius F. Boerkoel},
  journal={American journal of medical genetics. Part A},
  year={2016},
  volume={170 12},
  pages={3106-3114}
}
Failure to thrive arises as a complication of a heterogeneous group of disorders. We describe two female siblings with spastic paraplegia and global developmental delay but also, atypically for the HSPs, poor weight gain classified as failure to thrive. After extensive clinical and biochemical investigations failed to identify the etiology, we used exome… CONTINUE READING