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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 |
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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 |