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Lethal congenital contracture syndrome 4
- ... chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third ...
- ... of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4. ...
- ... 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 ...