Publications by authors named "Coumarane Mani"
Case Rep Genet
November 2024
Article Synopsis
- - Heterozygous microdeletions at 13q12.3 are linked to 13q12.3 microdeletion syndrome, which causes issues like intellectual disabilities, microcephaly, and obesity due to the loss of multiple genes.
- - A pediatric patient with typical symptoms of this syndrome was found to have a 62-kb deletion at 13q12.3, specifically affecting the high mobility group box 1 gene without impacting surrounding genes.
- - The study underscores the crucial role of haploinsufficiency (having only one functional copy of a gene) in 13q12.3 microdeletion syndrome, enhancing our understanding of the clinical characteristics linked to this genetic disorder.
Article Synopsis
- Hereditary hemolytic anemias (HHA) are a group of diseases where red blood cells do not work properly, leading to various health problems.
- Researchers used a special test called next-generation sequencing (NGS) to study 456 patients with unexplained hemolytic anemia and found genetic mutations that caused the disease in 24% of them.
- The study highlighted the importance of understanding these genetic mutations and suggested that NGS testing should be used for patients with unexplained hemolytic anemia, especially newborns.
