Latest Genodermatoses Stories
In the journal PLoS Biology, a team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning.
Mutations which affect the gene ASXL3 cause a novel syndrome similar to Bohring-Opitz syndrome.
Thousands of individuals have had kidneys removed unnecessarily because doctors misdiagnosed their disease.
The causes of learning problems associated with an inherited brain tumor disorder are much more complex than scientists had anticipated.
New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from early breast cancer screening with mammograms beginning at age 40, and manual breast exams as early as adolescence.
- totally perplexed and mixed up.