TY  - GEN
AU  - Benito-Sanz,Sara
AU  - Belinchon-Martínez,Alberta
AU  - Aza-Carmona,Miriam
AU  - de la Torre,Carolina
AU  - Huber,Celine
AU  - González-Casado,Isabel
AU  - Ross,Judith L
AU  - Thomas,N Simon
AU  - Zinn,Andrew R
AU  - Cormier-Daire,Valerie
AU  - Heath,Karen E
TI  - 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
SN  - 1435-232X
PY  - 2017///0524
KW  - Base Sequence
KW  - Comparative Genomic Hybridization
KW  - Gene Duplication
KW  - genetics
KW  - Growth Disorders
KW  - Homeodomain Proteins
KW  - Humans
KW  - Introns
KW  - Multiplex Polymerase Chain Reaction
KW  - Nucleic Acid Amplification Techniques
KW  - Osteochondrodysplasias
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - Short Stature Homeobox Protein
N1  - Publication Type: Journal Article; Review
UR  - https://doi.org/10.1038/jhg.2016.113
ER  -