Cole–Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl
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DOI: 10.1097/md.0000000000009504
Abstract: Rationale: Cole–Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. Only 2 types of mutation sites in the P4HB and CRTAP… read more here.
Keywords: p4hb gene; deletion; chinese girl; cole carpenter ... See more keywords