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, B├Ąchinger HP, Moffatt P
Am J Hum Genet. 2015 96 (3): 425-31

PMID: 25683117 · PMCID: PMC4375435 · DOI:10.1016/j.ajhg.2014.12.027

MeSH Terms (18)

Child, Preschool Craniosynostoses Eye Abnormalities Female Gene Frequency Heterozygote Humans Hydrocephalus Infant Male Mutation, Missense Osteogenesis Imperfecta Pedigree Procollagen-Proline Dioxygenase Protein Conformation Protein Disulfide-Isomerases Protein Folding Sequence Analysis, DNA

Connections (1)

This publication is referenced by other Labnodes entities:

Links