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Disorder of bone
- Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from ...
- ... been identified that cause atelosteogenesis type 1, a disorder that affects the development of bones throughout the body. The mutations change single protein ...
- ... Mutations in the FGFR2 gene can cause other disorders that affect bone development. FGFR2 gene mutations have been found in ...
- ... and genetic analysis of ANK in arthritis and bone disease. Am J Hum Genet. 2006 Dec;79(6): ...
- ... is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. ...
- ... been found in some people with blood and bone marrow disorders. In particular, researchers have found somatic ATRX gene ... cases of myelodysplastic syndrome (MDS), which is a bone marrow disorder that usually occurs in older males.Somatic ATRX ...
- ... of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly). Gaucher ...
- ... cancer of blood-forming cells (leukemia) or other bone marrow disorders. Budd-Chiari syndrome, which results from a blocked ... mutation when it is caused by an underlying bone marrow disorder. It is unknown how one particular mutation can ...
- Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as ...
- ... to fracture. In people with severe congenital neutropenia, bone disorders can begin at any time from infancy through adulthood.Approximately 20 percent of people with severe congenital neutropenia develop ... cells produced by the bone marrow. Neutrophils surround foreign invaders and break them ...