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Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.
Karaoglu P, Quizon N, Pergande M, Wang H, Polat AI, Ersen A, Özer E, Willkomm L, Hiz Kurul S, Heredia R, Yis U, Selcen D, Çirak S. Karaoglu P, et al. Among authors: quizon n. Brain Dev. 2017 Apr;39(4):361-364. doi: 10.1016/j.braindev.2016.11.002. Epub 2016 Nov 19. Brain Dev. 2017. PMID: 27876398