Cole-Carpenter syndrome 1Cole-Carpenter syndrome caused by mutation in P4HBCole-Carpenter syndrome type 1P4HB Cole-Carpenter syndromeCLCRP1COLE-CARPENTER syndrome 1bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features
Definition
Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.
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