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Specialty. Ophthalmology, dermatology. Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (- cutaneous), and the hair. [1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. [1] OCA is caused by mutations in several genes that control the synthesis of melanin within the ...
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
H&E stain. Specialty. Endocrinology. Multiple endocrine neoplasia type 2B (MEN 2B) is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands. It is the most severe type of multiple endocrine neoplasia, [2] differentiated by the presence of benign oral and submucosal tumors in addition to endocrine malignancies.
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is ...
Human skin color. Human skin color ranges from the darkest brown to the lightest hues. Differences in skin color among individuals is caused by variation in pigmentation, which is the result of genetics (inherited from one's biological parents), exposure to the sun, disorders, or some combination thereof.
Somatic evolution in cancer. Somatic evolution is the accumulation of mutations and epimutations in somatic cells (the cells of a body, as opposed to germ plasm and stem cells) during a lifetime, and the effects of those mutations and epimutations on the fitness of those cells. This evolutionary process has first been shown by the studies of ...
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. [1][2] Individuals with the condition are referred to as albinos. Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify.
Werner syndrome patients exhibit growth retardation, short stature, premature graying of hair, alopecia (hair loss), wrinkling, prematurely aged faces with beaked noses, skin atrophy (wasting away) with scleroderma-like lesions, lipodystrophy (loss of fat tissues), abnormal fat deposition leading to thin legs and arms, and severe ulcerations around the Achilles tendon and malleoli (around ankles).