Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104377
Abstract: Carpenter syndrome 1 (CRPT1) is an acrocephalopolysyndactyly (ACPS) disorder characterized by craniosynostosis, polysyndactyly, obesity, and other malformations. It is caused by mutations in the gene RAB23. We are reporting on two patients from two unrelated… read more here.
Keywords: spectrum; expansion phenotypic; carpenter; carpenter syndrome ... See more keywords
Cole–Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl
Sign Up to like & getrecommendations! Published in 2017 at "Medicine"
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