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This became known as type 2B of the condition (with the gene designated WS2B), however it has not been documented since, and the gene responsible remains unknown. [ 21 ] [ 22 ] Type 2C was established in 2001 when a study of an Italian family with Waardenburg syndrome type 2 features found that they were due to an unknown gene on chromosome 8 ...
Deafness in animals can occur as either unilateral (one ear affected) or bilateral (both ears affected). This occurrence of either type of deafness seems to be relatively the same in both mixed-breed animals and pure-breed animals. [5] Research has found a significant association between deafness in dogs and the pigment genes piebald and merle ...
Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness). [7] One fairly common mutation is the deletion of one guanine from a string of six, resulting in a frameshift and termination of the protein at amino acid number 13. Having ...
The most common type of congenital hearing loss in developed countries is DFNB1, also known as connexin 26 deafness or GJB2-related deafness. The most common dominant syndromic forms of hearing loss include Stickler syndrome and Waardenburg syndrome. The most common recessive syndromic forms of hearing loss are Pendred syndrome and Usher syndrome.
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.
A completely deaf, solid white, blue-eyed cat A deaf white cat with yellow eyes. This engraving depicts two cats on a wall with a dog barking below them. The spotted cat hisses at the dog while the deaf white cat dozes, unaware of the barking. Congenital sensorineural deafness occurs commonly in domestic cats with a white coat.
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Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance.