Latest Genetic disorders Stories
Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
A new single-gene cause of chronic kidney disease has been discovered that implicates a disease mechanism not previously believed to be related to the disease.
Systemic complications include life-threatening thoracic aortic disease
DNA from cystic fibrosis patients with and without chronic infections points to unsuspected mutation
The Munchkin is a fairly new breed of cat with a lot of controversy surrounding it. The breed is created by a mutation that causes achondroplasia, or hypochondroplasia, which results in the cats having abnormally short legs. The breed originated when a pregnant, short-legged black cat was discovered in Louisiana in 1983. One of her kittens, a tomcat, became the father of the breeding program for Munchkins. Several cat registries refuse to recognize the breed due to the controversy that...
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