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Abnormally large globe
- ... in skin cells and the retina can grow abnormally large. It is unclear how these giant melanosomes (macromelanosomes) are related to vision loss and other eye abnormalities in people with ocular albinism.Most forms ...
- ... called melanosomes (which are related to lysosomes) are abnormally large. These structures produce and distribute a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have ...
- ... affects the brain, immune system, heart, skin, and eyes. Most of these ... tissues that require large amounts of energy; however, they do not fully ...
- ... the tumor. Gene amplification, which results in an abnormally large number of copies of the FGFR1 gene, occurs in several forms of cancer. These include some cancers of the lung, esophagus, ... with cancer abnormally increase the activity of the FGFR1 protein and ...
- ... melanocytic nevus. This condition is characterized by a large, noncancerous patch of abnormally dark skin that is present from birth and ... to production of a BRAF protein that is abnormally active, which disrupts ... leads to a large patch of darkly pigmented skin characteristic of giant ...
- ... and irritation. However, it is unclear how the abnormally active protein causes the specific pattern of inflammation affecting the skin, joints, and eyes that is characteristic of Blau syndrome.NOD2 gene ...
- ... in the ATP8B1 gene that cause PFIC1 remove large portions of the gene or lead to an abnormally short protein. These mutations are likely to severely ...
- ... abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye movements, and breathing problems. The OFD1 mutations responsible for Joubert syndrome lead to the production of an abnormally short version of the OFD1 protein. However, studies ...
- ... gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most ...
- ... early embryonic development of the limbs, kidneys, and eyes. At least 145 mutations in the LMX1B gene have been found to cause nail-patella syndrome. Most mutations result in the production of an abnormally short, nonfunctional version of the LMX1B protein or ...
