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Abnormal bone structure
- A desmoid tumor is an abnormal growth that ... although some people have multiple tumors. The tumors can occur anywhere in the ...
- ... lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces ...
- ... structure of type I collagen molecules, resulting in abnormal type I collagen. A defect in the structure of type I collagen weakens connective tissues, particularly bone, resulting in the characteristic features of these more ...
- Liebenberg syndrome is a condition ... abnormally shaped, which affects mobility of the joints. The stiff elbows function ...
- ... thoracic dysplasia is a rare condition characterized by abnormal ... bones (vertebrae).In addition to intellectual disability, individuals with ...
- ... needed.Variants in the VCP gene alter the structure of valosin-containing protein, impairing its ability to break down other proteins. As a result, excess and abnormal proteins build up in muscle, bone, and brain cells. The proteins form clumps that ...
- ... water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints.The ACAN gene mutation associated with familial osteochondritis dissecans results in an abnormal protein that is unable to attach to the ...
- ... one of the IFT-A subunits. Shortage or abnormal function of a single component of ... of bone, ectodermal tissues, and other tissues and organs, leading ...
- ... involved in the development of the brain and bones before birth.Variants in ... cause abnormal heart muscle contractions and arrhythmia. It is thought ...
- ... the first and second pharyngeal arches, which are structures in the embryo ... (maxilla). This abnormal shape leads to micrognathia and problems with TMJ ...