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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 .
The human brain is the central organ of the human nervous system, and with the spinal cord, comprises the central nervous system. It consists of the cerebrum, the brainstem and the cerebellum. The brain controls most of the activities of the body, processing, integrating, and coordinating the information it receives from the sensory nervous ...
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Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene. [5] [6]The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina.
CMV is really common—more than half of adults have been infected with it by age 40, according to the Centers for Disease Control and Prevention (CDC). Most people with CMV show no symptoms, but ...
Thankfully, there are brain supplements for adults – specifically, vital vitamins that have been shown to boost brain function. These vitamins include B vitamins, vitamin D and omega-3 fatty acids.
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.