2024/10/14 -Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies.
2024/10/14 -Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of ...
2024/10/31 -Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia ...
2024/10/22 -RCDP is a rare autosomal recessively inherited skeletal dysplasia characterized by rhizomelia, ichthyosis, seizures, repeated infections, ...
2024/11/2 -Novel mutations in GNPAT cause rhizomelic chondrodysplasia punctata (RCDP) type 2. Observational study of gene-disease association. (HuGE Navigator) ...
2024/10/22 -Clinical characteristics of RCDP include the shortening of limbs (rhizomelia), premature calcifications of the epiphyseal cartilage, microcephaly, facial ...
2024/11/3 -Novel mutations in AGPS (alkylglycerone-phosphate synthase) cause rhizomelic chondrodysplasia punctata (RCDP) type 3. Observational study of gene-disease ...
4日前 -Rhizomelic chondrodysplasia punctata is a disorder that causes abnormal development of many parts of the body. Males and females are equally likely to be ...
2日前 -Achondroplasia is a rare genetic bone disorder that is primarily characterized by dwarfism and rhizomelic shortening. This condition may give rise to a ...
2024/10/18 -In this study, we have identified a novel frameshift deletion variant of ARSL in a male fetus with facial dysmorphism detected by ultrasound.