P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
Meena BalasubramanianRaja PadidelaRebecca C PollittNicholas J BishopM Zulf MughalAmaka C OffiahBart E WagnerJanine McCaugheyDavid J StephensPublished in: Journal of medical genetics (2017)
We provide additional evidence of P4HB as a cause of a specific form of OI-CCS and expand on response to treatment with bisphosphonates in this rare disorder.