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Lethal congenital contracture syndrome 2
- ... Meyer D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol. 2003 ... in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal ... subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb ...
- ... novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417. Citation ...