Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bachinger HP, Moffatt P. Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB. Am J Hum Genet. 2015 Mar 5;96(3):425-31.

PubMed ID: 
25683117