| First Author | Brilliant MH | Year | 1992 |
| Journal | Mamm Genome | Volume | 3 |
| Issue | 4 | Pages | 187-91 |
| PubMed ID | 1611213 | Mgi Jnum | J:3253 |
| Mgi Id | MGI:51767 | Doi | 10.1007/BF00355717 |
| Citation | Brilliant MH (1992) The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. Mamm Genome 3(4):187-91 |
| abstractText | The region of mouse Chromosome (Chr) 7 containing the mouse pink-eyed dilution locus, p, is syntenic with human chromosome 15q11-q13, a region associated with three human syndromes, Prader-Willi syndrome (PWS), Angelman syndrome (AS), and a form of hypomelanosis of Ito (HI). Because some mutant alleles of p also share a subset of phenotypes with PWS, AS, and HI, the same gene or genes disrupted by p locus mutations are potentially involved in the phenotypes of PWS, AS, and HI. |
