Norio Niikawa
From Wikipedia, the free encyclopedia
Born8 May 1942
Died4 April 2022 (aged 79)
AlmamaterHokkaido University
KnownforKabuki syndrome
Earwax gene
Earwax gene
Norio Niikawa | |
|---|---|
新川 詔夫 | |
| Born | 8 May 1942 |
| Died | 4 April 2022 (aged 79) |
| Alma mater | Hokkaido University |
| Known for | Kabuki syndrome Earwax gene |
| Scientific career | |
| Fields | Pediatrics Medical genetics |
| Institutions | Health Sciences University of Hokkaido Nagasaki University Geneva University Hokkaido University |
| Doctoral students | Naomichi Matsumoto |
Norio Niikawa (新川 詔夫, Niikawa Norio; 8 May 1942 – 11 April 2020) was a Japanese physician and medical geneticist who discovered an autosomal dominant disorder, Kabuki syndrome, also known as Niikawa-Kuroki syndrome.[1]
Niikawa made an important contribution in the field of medical genetics. In 1981, he discovered a novel syndrome, Kabuki syndrome,[2] and later he and his colleagues also identified a gene for the syndrome.[3] In 2006, his research group identified a single nucleotide polymorphism (SNP) in the ABCC11 gene is the determinant of human earwax type.[4]
