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Lethal congenital contracture syndrome 1
- ... type II, alpha 1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC STL1 Tests of COL2A1 PubMed COLLAGEN, TYPE ...
- ... P, Levy N. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004 Oct 15; ...