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- ... cold. In people with HSAN2, unnoticed injuries often lead to open sores (ulcers) on the hands and ... the tongue, lips, or fingers. These injuries may lead to loss of the affected areas, such as ...
- ... of chromosomes resulting from inadequate telomere maintenance may lead to genetic changes that allow cells to divide ... of cells can cause uncontrolled cell growth and lead to development of cancer. More About This Health ...
- ... gene mutations that cause Nijmegen breakage syndrome typically lead to the production of an abnormally short version ... people's cells. A buildup of these breaks lead to errors in DNA that can trigger cells ...
- ... of proteolipid protein 1 and DM20. Other mutations lead to production of abnormal proteins that are often ... to form myelin. The accumulation of excess proteins leads to swelling and breakdown of nerve fibers. Still ...
- ... calcium and phosphorus. Damage to the parathyroid glands leads to reduced parathyroid hormone production (hypoparathyroidism). Hypoparathyroidism can ... disease). Reduced hormone production by the adrenal glands leads to signs and symptoms that can include fatigue, ...
- ... production, while disruption of the cell cycle can lead to cell death. This overall reduction in the number of cells leads to short bones, microcephaly, and the other signs ...
- ... legs, and skull.The thick limb bones can lead to bone pain and muscle weakness in the ... may have an unusually thick skull, which can lead to an abnormally large head (macrocephaly) and lower ...
- ... causes continued damage to the retina and can lead to worsening of the condition. The signs and ... This causes chronic inflammation which, over time, can lead to fluid under the retina (exudate). A reduction ...
- ... for approximately 80 percent of cases. These mutations lead to a shortage of E1 alpha protein or ... function properly. A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex. ...
- ... characterized by a loss of motor neurons that leads to weakness and wasting (atrophy) in muscles used ... Researchers suggest that a shortage of SMN protein leads to the inefficient assembly of the machinery needed ...