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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, Belinchon-Martínez, Alberta, Aza-Carmona, Miriam, de la Torre, Carolina, Huber, Celine, González-Casado, Isabel, Ross, Judith L, Thomas, N Simon, Zinn, Andrew R, Cormier-Daire, ValeLanguage:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2016.113
Date:
September, 2016
File:
PDF, 1.07 MB
english, 2016