Bloom syndrome

{
  "id": "MLC-T-CHM-001395",
  "term": "Bloom syndrome",
  "field": "Chemistry",
  "definition": "A genetic condition resulting from mutations in the BLM gene, which encodes a DNA helicase protein responsible for maintaining genome integrity. The absence of functional BLM protein causes a high rate of chromosomal breakage and rearrangement, leading to genomic instability. This autosomal recessive disorder is clinically recognized by features including sun-sensitive skin rashes, below-average height, immunodeficiency, and a strong predisposition to developing cancers.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "T lymphocyte"
  ],
  "references": [
    "PAC, 2012, 84, 1113. 'IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)' on page 1136 (https://doi.org/10.1351/PAC-REC-11-06-03)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/bloom-syndrome/"
}