✦ LIBER ✦
The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito
✍ Scribed by Murray H. Brilliant
- Publisher
- Springer-Verlag
- Year
- 1992
- Tongue
- English
- Weight
- 577 KB
- Volume
- 3
- Category
- Article
- ISSN
- 0938-8990
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✦ Synopsis
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.