Parent-of-Origin Specific Histone Acetylation and Reactivation of a Key Imprinted Gene Locus in Prader-Willi Syndrome
โ Scribed by Shinji Saitoh; Takahito Wada
- Book ID
- 117853291
- Publisher
- American Society of Human Genetics
- Year
- 2000
- Tongue
- English
- Weight
- 384 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302917
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The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of
Phenotypic variability in children with Prader-Willi syndrome (PWS) was investigated with respect to variable expression of the contiguous gene syndrome and trait variance. In a prospective study, parent/child resemblance of anthropometric and psychometric measures was analyzed in 22 children with P