Publications by authors named "Kozue Akabane"
Article Synopsis
- Tietz albinism-deafness syndrome (TADS) is a rare genetic disorder mainly caused by changes in a gene called MITF.
- A case study involving a 3-year-old girl showed that she had lighter skin, hair, and eyes, along with total hearing loss because of a new mutation in MITF.
- The research found that this mutation impacts how cells produce color but does not change the number of color-producing cells, helping scientists understand more about TADS and its causes.