Links
[1] http://ghr.nlm.nih.gov/gene/P4HB
[2] http://ghr.nlm.nih.gov/search?query=pdi
[3] https://disorders.eyes.arizona.edu/disorders/cole-carpenter-syndrome-2
[4] http://omim.org/entry/616294
[5] https://disorders.eyes.arizona.edu/references/cole-carpenter-syndrome-caused-heterozygous-missense-mutation-p4hb
[6] https://disorders.eyes.arizona.edu/references/bone-fragility-craniosynostosis-ocular-proptosis-hydrocephalus-and-distinctive-facial-fea