Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. [electronic resource]
- Journal of human genetics Feb 2017
- 229-234 p. digital
Publication Type: Journal Article; Review
1435-232X
10.1038/jhg.2016.113 doi
Base Sequence Comparative Genomic Hybridization Gene Duplication--genetics Growth Disorders--genetics Homeodomain Proteins--genetics Humans Introns--genetics Multiplex Polymerase Chain Reaction Nucleic Acid Amplification Techniques Osteochondrodysplasias--genetics Sequence Analysis, DNA Sequence Deletion--genetics Short Stature Homeobox Protein