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Article

Duplication of 15q11.2-q14, including theP gene, in a woman with generalized skin hyperpigmentation

1 Jan 2001

Abstract excerpt

We describe a woman with 15q11.2-q14 duplication who had clinical manifestations of proximal 15q trisomy and hyperpigmentation. Within this region, the P gene, located at chromosome segment 15q11.2-q12, is associated with oculocutaneous albinism type II (OCA2) and with hypopigmentation in the Prader-Willi and Angelman chromosome 15q deletion syndromes. We therefore hypothesized that in this woman skin...

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PMID: 11754064
DOI: 10.1002/ajmg.10095

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