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Results 1 - 3 of 3 for Lethal congenital contracture syndrome 8
  1. ... chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third ...
  2. ... mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25. Citation on PubMed Garg A, Subramanyam L, Agarwal AK, Simha V, ... Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin ...
  3. ... Med Genet. 1996 May 3;63(1):123-8. doi: ... platyspondylic lethal skeletal dysplasia, torrance type, and define a novel ...