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.

Benito-Sanz, Sara

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