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- ... shape, but it is unknown how these changes lead to the signs and symptoms of Caffey disease. ... changes that cause this form of the disorder lead to the production of a pro-α1(I) ...
- ... very muscular appearance. A shortage of adipose tissue leads to multiple health problems, including high levels of ... accumulation is thought to damage motor neurons, which leads to muscle weakness and the signs and symptoms ...
- ... COL11A2 gene mutations that cause fibrochondrogenesis type 2 lead to the production of an abnormal version of ... and causing changes in the inner ear that lead to hearing problems. More About This Health Condition ...
- ... recharge between beats. The irregular heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest and sudden ... syndrome grow slowly before and after birth, which leads to short stature. Additionally, many affected individuals have ...
- ... especially apparent during exercise (exercise intolerance) and can lead to an unusual walking style (gait), frequent falls, ... results from overactivation (hyperexcitability) of peripheral nerves, which leads to delayed relaxation of muscles after voluntary tensing ( ...
- ... in low levels of the hormone estrogen, which leads to many of the common signs and symptoms ... in 200 females has the genetic change that leads to FXPOI, although only about a quarter of ...
- ... of the Notch2 receptor. The genetic changes probably lead to the production of a receptor that is ... in a region called exon 34. These mutations lead to an abnormally shortened version of the Notch2 ...
- ... exactly how this variant in the GJA1 gene leads to the bone abnormalities that are seen in ... scaly, and calloused. The variants that cause EKVP3 lead to the production of an abnormal version of ...
- ... gene in each cell. Most of these changes lead to the production of an abnormally short, nonfunctional ... ions in the inner ear and cardiac muscle leads to the hearing loss and arrhythmia characteristic of ...
- ... within the gene.Mutations in the F9 gene lead to the production of an abnormal version of ... response to injury. These problems with blood clotting lead to excessive bleeding that can be difficult to ...