Overview
Research a genetic database to find an example of a rare human genetic disorder that you want us to learn about
In 2-3 lines, describe the disease and include a link to your source of information
I start: Epidermolysis Bullosa. It is a rare group of disorders, characterized by extreme mucosal fragility, that predisposes patients to development of blisters, spontaneously or after minimal contact or friction. Caused by defects in the proteins involved in the attachment of the endodermis.
More than 1000 mutations and over 20 genes have been identified as responsible for these disorders.
More than 30 different phenotypes, making its diagnosis difficult, and patients sometimes have to wait years to get diagnosted correctly!
1 in 50,000 live births