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Lethal congenital contracture syndrome 6
- ... 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 ...
- ... in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel ...
