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Lethal congenital contracture syndrome 7
- ... chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third ...
- ... spinal muscular atrophy. Neurology. 2015 Feb 17;84(7):668-79. doi: ... muscular atrophy with arthrogryposis to asymptomatic with subclinical ...
- ... Cocco E, Marrosu G, Giovanna Marrosu M. Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. Acta Myol. 2013 May;32(1):7-17. Citation on PubMed or Free article on ...
- ... in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. Citation on ...