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Article

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

American journal of medical genetics - 11 Jul 1997

Spritz R A, Bailin T, Nicholls R D, Lee S T, Park S K, Mascari M J, Butler M G

Abstract excerpt

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, is associated with OCA2, an autosomal recessive disorder that is the most frequent form of tyrosinase-positive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

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Source

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Identifiers

PMID: 9215770
DOI: 10.1002/(sici)1096-8628(19970711)71:1<57::aid-ajmg11>3.0.co;2-u
PMCID: PMC6067925

Genes

OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.PMID 9215770Read ↗

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