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Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez A, Sentchordi-Montané L, Duncan EL, Clark GR, Del Pozo A, Ibáñez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE. Barraza-García J, et al. Among authors: belinchon martinez a. Clin Genet. 2017 Jul;92(1):91-98. doi: 10.1111/cge.12964. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28067412 Free article.
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 S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: belinchon martinez a. J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604558 Review.