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Hypopigmentation in the Prader-Willi Syndrome Correlates With P Gene Deletion But Not With Haplotype of the Hemizygous P Allele

The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15q11-q13 or maternal disomy for chromosome 15. Reduced pigmentation of skin, hair, and eyes is common in PWS and was suggested previously to be associated with the 15q11-q13 deletion. The P gene, located in this same region...

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Detalhes bibliográficos
Publicado no:Am J Med Genet
Main Authors: Spritz, Richard A., Bailin, Tu, Nicholls, Robert D., Lee, Seung-Taek, Park, Sang-Kyu, Mascari, Maria J., Butler, Merlin G.
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6067925/
https://ncbi.nlm.nih.gov/pubmed/9215770
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