期刊
PEDIATRIC CLINICS OF NORTH AMERICA
卷 62, 期 3, 页码 587-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.pcl.2015.03.004
关键词
Prader-Willi syndrome; Angelman syndrome; Chromosome 15q11-q13 duplication; Genomic imprinting; Copy number variation; DNA methylation; UBE3A; SNRPN
类别
资金
- NICHD NIH HHS [R01 HD068730] Funding Source: Medline
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from the loss of function or overexpression of at least 1 imprinted gene. This article discusses the clinical background, genetic cause, diagnostic strategy, and management of each of these 3 disorders.
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