Results 61 -
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129
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Bone development disease
- ... Variants in genes that play roles in the development and maintenance of the intervertebral discs and vertebrae have also been found to be associated with intervertebral disc disease. The associated variants can lead to disc degeneration ...
- ... of certain genes, particularly those involved in the development of the brain and bones before birth.Variants in the CACNA1C gene that ...
- ... in other genes that may contribute to the development and features of Kallmann syndrome, but are unlikely to cause the disease on their own.The genes associated with Kallmann ...
- ... typically involved in the formation and maintenance of bone and cartilage. For example, some of these genes are involved in the development of cartilage; if the genes are not expressed ...
- ... problems; hair loss or prematurely grey hair; low bone mineral density (osteoporosis); degeneration (avascular necrosis) of the hip and shoulder joints; or liver disease. Some affected males may have narrowing (stenosis) of ...
- ... spleen (splenomegaly), or lymph nodes (lymphadenopathy). In the bone marrow, the lymphoplasmacytic cells interfere with normal blood cell development, causing a shortage of healthy blood cells (pancytopenia). ...
- ... much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after ...
- ... formation of the arms and legs during early development. Some children with this disorder have shortened bones in the fingers or toes, while others have ...
- ... a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of ...
- ... begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into ...