Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
Published 2016 View Full Article
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Title
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
Authors
Keywords
Facio-Scapulo-Humeral Dystrophy, DNA methylation, SMCHD1, DNA combing, Haploinsufficiency, DUX4
Journal
BMC Medical Genetics
Volume 17, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-09-15
DOI
10.1186/s12881-016-0328-9
References
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