2024/6/16 -In this study, we investigated a lethal form of recessive chondrodysplasia observed in 21 stillborn calves of the Aubrac breed of beef cattle. Results Detailed ...
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 ...
2024/6/15 -Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case ...
2024/6/12 -We reported a prenatal case of rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene, which emphasized the important ...
2024/6/4 -Shortening of the proximal limbs (called rhizomelic shortening); Short fingers and toes, with "trident hands" (short hands with stubby fingers, and a ...
2024/6/16 -These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1, which impairs development of many parts of the body.
2024/6/17 -A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in the GNPAT gene https://t.co/mUSxW1lC9K ...
2024/5/31 -Brittany and John found themselves navigating uncharted waters when their son, Elias, was diagnosed with rhizomelic chondrodysplasia punctata (RCDP) type 1.