PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts and white matter changes
Tian Zhao, Caitlin Goedhart, Pingdewinde N. Sam, Rasha Sabouny, Susanne Lingrell, Adam J. Cornish, Ryan E. Lamont, François P. Bernier, David S. Sinasac, Jillian S. Parboosingh, Jean E. Vance, Steven Michael Claypool, Allan Micheil Innes, Timothy E. Shutt
The paper identifies PISD as a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes through exome sequencing and functional analysis of patient fibroblasts.
Life Science Alliance · Mar 11, 2019Peer-reviewedMolecular Biology