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Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffrè M. Corsello G, et al. Among authors: vecchio d. Am J Med Genet A. 2015 Dec;167A(12):3130-8. doi: 10.1002/ajmg.a.37293. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333487
The Coat-Hanger Angle Sign.
Vecchio D, Giuffrè M. Vecchio D, et al. J Pediatr. 2016 Oct;177:325-325.e1. doi: 10.1016/j.jpeds.2016.05.077. Epub 2016 Jun 24. J Pediatr. 2016. PMID: 27349140 No abstract available.
389 results