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Genetic Conditions > platyspondylic lethal skeletal dysplasia, Torrance type >

References

These sources were used to develop the Genetics Home Reference condition summary on platyspondylic lethal skeletal dysplasia, Torrance type.

Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. Pediatr Radiol. 2003 Nov;33(11):786-90. Epub 2003 Sep 5. Review. PubMed citation
Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet. 2004 Jan;41(1):75-9. PubMed citation
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A. Dominant negative mutations 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. PubMed citation

Reviewed: July 2008

Published: May 20, 2013