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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
Before gene testing was available, the type and location of tumors determined which type of MEN2 a person had. Gene testing now allows a diagnosis before tumors or symptoms develop. [citation needed] Comparison of main types of multiple endocrine neoplasia. A table in the multiple endocrine neoplasia article compares the various MEN syndromes ...
Uveal melanoma is a type of eye cancer in the uvea of the eye. [3] It is traditionally classed as originating in the iris, choroid, and ciliary body, but can also be divided into class I (low metastatic risk) and class II (high metastatic risk). [3] Symptoms include blurred vision, loss of vision, and photopsia, but there may be no symptoms. [4]
A new study investigated 30 cancer types in men and found that the number of cancer cases and deaths is likely to increase significantly by 2050. The researchers project an 84% increase in male ...
The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. BCD is associated with mutations in the CYP4V2 gene. [2] The nematode C. elegans has a duplicated gene (cyp31A2 and cyp31A3) that are orthologous of the human gene ...
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Because many symptoms of cancer are gradual in onset and general in nature, cancer screening (also called cancer surveillance) is a key public health priority. This may include laboratory work, physical examinations, tissue samples, or diagnostic imaging tests that a community of experts recommends be conducted at set intervals for particular ...