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Abnormality of the lung
- ... which increases a person's risk of developing lung disease, liver disease, and other abnormalities.Many SERPINA1 gene variants change single protein building ...
- ... disorder of bone growth characterized by severe skeletal abnormalities and hearing loss. Infants with fibrochondrogenesis type 2 have a very narrow chest that prevents the lungs from developing normally. Most infants with this condition ...
- ... and other immune cells. The resulting immune system abnormalities make people with AD-HIES highly susceptible to infections, particularly bacterial and fungal infections of the lungs and skin. A shortage of STAT1 protein is ...
- ... disorder of bone growth characterized by severe skeletal abnormalities, hearing loss, and vision loss. Infants with fibrochondrogenesis type 1 have a very narrow chest that prevents the lungs from developing normally. Most children with this condition ...
- ... with FOXF1 gene mutations usually also have gastrointestinal abnormalities. More About This Health Condition ... AM, Whitsett JA, Costa RH. Foxf1 haploinsufficiency reduces Notch-2 signaling during mouse lung development. Am J Physiol Lung Cell Mol Physiol. ...
- ... blood that needs to be oxygenated to the lungs from the heart (pulmonary arteries). ... of PVOD. More About This Health Condition ...
- ... for normal development of the skeleton, heart, kidneys, lungs, and nervous system.The ... is characterized by abnormalities of the fingers and toes, particularly shortening of ...
- ... in the KRAS gene have been associated with lung cancer. Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a ...
- ... vessels, blood clotting, skin elasticity, the maintenance of lung tissue, and the function of the digestive system. ... review of filamin A mutations and associated interstitial lung disease. Eur J Pediatr. 2019 Feb;178(2): ...
- ... of cancer. These include some cancers of the lung, esophagus, breast, and oral cavity. Additionally, variants that ... G, Li M, Zhou C. FGFR1 amplification in lung squamous cell carcinoma: a systematic review with meta- ...