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References

These sources were used to develop the Genetics Home Reference condition summary on diastrophic dysplasia.

Canto MJ, Buixeda M, Palau J, Ojeda F. Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. Prenat Diagn. 2007 Oct;27(10):976-8. Review. PubMed citation
Gene Review: Diastrophic Dysplasia
Remes V, Poussa M, Lönnqvist T, Puusa A, Tervahartiala P, Helenius I, Peltonen J. Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis. J Pediatr Orthop. 2004 Sep-Oct;24(5):546-51. PubMed citation
Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. Erratum in: Hum Mutat 2001;18(1):82. PubMed citation

Reviewed: February 2008

Published: May 21, 2012