Publications by authors named "Eva Svarch"
Article Synopsis
- Treatment of hematologic disorders like sickle cell disease and aplastic anemia is challenging in low-income countries due to resource limitations.
- Pediatric hematologists from 15 LIC reported effective use of low-dose hydroxyurea for sickle cell disease, which helped minimize pain crises.
- Patients with severe aplastic anemia struggled because of the high cost and limited availability of essential treatments, highlighting the importance of partnerships with higher-income centers for better care.
Growth/differentiation factor-5 (GDF5), also known as cartilage-derived morphogenetic protein-1 (CDMP-1), is a secreted signaling molecule that participates in skeletal morphogenesis. Heterozygous mutations in GDF5, which maps to human chromosome 20, occur in individuals with autosomal dominant brachydactyly type C (BDC). Here we show that BDC is locus homogeneous by reporting a GDF5 frameshift mutation segregating with the phenotype in a family whose trait was initially thought to map to human chromosome 12.
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