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.
2024/6/11 -We reported a prenatal case of rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene, which emphasized the important role of ...
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 ...
2024/5/28 -This disease is described under Rhizomelic chondrodysplasia punctata. Detailed information. General public. Article for general public.
2024/6/17 -Conclusions We report the first spontaneous large animal model of rhizomelic chondrodysplasia punctata and provide both a diagnostic test to counter-select this ...
2024/6/7 -There are multiple skeletal anomalies associated with this class of dysplasias, and common manifestations are: severe rhizomelic limb shortening. bowed ...
2024/4/28 -Achondroplasia: Really rhizomelic? Susan Cheng Shelmerdine, Helen Brittain ... rhizomelic shortening is a true feature of achondroplasia at diagnosis in infancy.
2024/3/31 -List of variants in gene PEX7 reported as likely pathogenic for Rhizomelic chondrodysplasia punctata type 1. Minimum submission review status:.
2024/6/17 -A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in the GNPAT gene https://t.co/PIF0bLaJod #bioRxiv.