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Rare multisystem ciliopathy disorders v1.77 C2CD3 Eleanor Williams Publications for gene: C2CD3 were set to 24997988; 27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism
and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cells; 26044959
Rare multisystem ciliopathy disorders v1.76 C2CD3 Eleanor Williams commented on gene: C2CD3
Rare multisystem ciliopathy disorders C2CD3 Alice Gardham marked C2CD3 as ready
Rare multisystem ciliopathy disorders C2CD3 Alice Gardham classified C2CD3 as green
Rare multisystem ciliopathy disorders C2CD3 Ellen McDonagh reviewed C2CD3
Rare multisystem ciliopathy disorders C2CD3 Alice Gardham classified C2CD3 as amber
Rare multisystem ciliopathy disorders C2CD3 Alice Gardham commented on C2CD3