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Results 1 - 2 of 2 for Lethal congenital contracture syndrome 3
  1. ... the signs and symptoms of Hutchinson-Gilford progeria syndrome. More About This Health Condition At least 15 mutations in the LMNA gene have been reported to cause LMNA-related congenital muscular dystrophy (L-CMD), a rare condition characterized ...
  2. ... MP. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am J Hum Genet. 2000 Nov;67(5):1083-94. doi: 10.1016/S0002-9297(07)62938-3. Epub 2000 Sep 25. Citation on PubMed or ...