Disease: Bone fragility craniosynostosis proptosis hydrocephalus
- Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta
- Cole-Carpenter syndrome in a patient from Thailand
- Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
- Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report
- CRTAP mutation in a patient with Cole-Carpenter syndrome