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Article

Paternal uniparental disomy 14 and related disorders

6 Sept 2012

Abstract excerpt

Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the chromosome 14q32.2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd(14)pat phenotype, several matters, including regulatory mechanism(s) for RTL1 expression, imprinting status of DIO3 and placental histological characteristics, remain...

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Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
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PMID: 22917972
DOI: 10.4161/epi.21937

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