M B Sheridan A Bytyci Telegrafi V Stinnett C C Umeh Z Mari T M Dawson J Bodurtha D A S Batista
10.1111/cge.12075
Clin Genet
2013 Oct;84(4):368-72.
silver-russell syndrome epsilon-sarcoglycan maternal uniparental disomy of chromosome 7 myoclonus-dystonia
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23237735/
Chromosomes, Human, Pair 7 Dystonic Disorders / genetics Silver-Russell Syndrome / genetics Uniparental Disomy
Chromosomes, Human, Pair 7 Dystonic Disorders / genetics Silver-Russell Syndrome / genetics Uniparental Disomy Case Reports Research Support, N.I.H., Extramural Alleles CpG Islands DNA Methylation Humans Loss of Heterozygosity Male Phenotype Polymorphism, Single Nucleotide Promoter Regions, Genetic Sarcoglycans / genetics Young Adult SGCE protein, human Sarcoglycans Myoclonic dystonia
PMC3657309
23237735
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7
2013