The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome,Angelman syndrome,and a form of hypomelanosis of Ito |
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Authors: | Murray H. Brilliant |
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Affiliation: | (1) Fox Chase Cancer Center, The Institute for Cancer Research, 7701 Burholme Avenue, 19111 Philadelphia, Pennsylvania, USA |
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Abstract: | 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. |
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