2日前 -Achondroplasia (ACH) is the most common form of rhizomelic dwarfism with 3.7 to 4.6 per 100,000 births.1,2 The etiology mainly relates to gene mutation ...
1日前 -Achondroplasia is the most common form of rhizomelic dwarfism. Aside from disproportionally short extremities, frontal knee malalignments are common. We ...
6日前 -PubMed Clinical Queries. This tool uses predefined filters to help you quickly refine PubMed searches on clinical or disease-specific topics.
3日前 -Autosomal dominant with complete penetrance. 80% cases new mutations. 99+% of the mutations are FGFR3, G380R (134934.0001). Paternal age effect.
3日前 -Sedaghatian (1980) described an Iranian family with 3 sibs, 2 boys and a girl, with severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper ...
5日前 -The 23andMe Personal Genetic Service® analyzes the DNA in your sample using microarray genotyping. 23andMe periodically updates its genotyping chip in order ...
6日前 -Quadriparesis can be a transient, functional condition usually associated with rhizomelic involvement of the shoulder and pelvic girdle. It is usually due ...
2日前 -Allelic disorder: Rhizomelic chondrodysplasia punctata type 1 (RCDP1). Protein: Peroxin 7. Function Peroxisome Import. Proteins with peroxisomal targeting ...
6日前 -Description: Software tool to help study pre-mRNA splicing and to better understand intronic and exonic mutations leading to splicing defects.
5日前 -KIT-13 also promoted neurogenesis and inhibited apoptosis of neuronal-like cells, highlighting its potential in fostering neuronal growth and plasticity.