2024/5/28 -Disease definition. Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies ...
2024/5/14 -Definition. Congenital disorder characterized by stature retardation, micromelia, clubfoot, postnatal scoliosis, joint stiffness, and ear pinna abnormalities.
2024/5/28 -This disease is described under Rhizomelic chondrodysplasia punctata. Detailed information. General public. Article for general public.
2024/4/28 -Rhizomelic Chondrodysplasia Punctata. Rhizomelic Chondrodysplasia Punctata (RCDP) is a severe phenotype caused by mutations in the same gene that causes ...
2024/6/16 -P- value. Trait. Wild-type Heterozygous. Birth weight (in kg). 7,928. 488. -0.08 (0.13) 0.54. Ease of calving (score from 1 to 5).
2024/6/17 -Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata. Observational study of gene-disease association. (HuGE Navigator); Functional ...
2024/6/1 -MR images. A, Axial T1-weighted image of the basal ganglia shows small delivery-related hemorrhage over the temporal convexity and bilateral areas (arrows) of ...
2024/6/7 -There are multiple skeletal anomalies associated with this class of dysplasias, and common manifestations are: severe rhizomelic limb shortening. bowed ...
2024/5/12 -... rhizomelic chondrodysplasia punctata type 2. Orthologous to human GNPAT ... Human ortholog(s) of this gene implicated in rhizomelic chondrodysplasia punctata type ...
2024/6/27 -... rhizomelic shortening and epiphyseal calcifications). Congenital infection (especially rubella, toxoplasmosis, CMV) found in 30% of cases. Investigations ...