Waisman Center
Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.

Diaphanospondylodysostosis and Ischiospinal dysostosis, Evidence for One Disorder With Variable Expression in a Patient Who Has Survived to Age 9 Years

Legare, MD, J. M. Diaphanospondylodysostosis and Ischiospinal Dysostosis, Evidence for One Disorder With Variable Expression in a Patient Who Has Survived to Age 9 Years.

Legare JM, Seaborg K, Laffin J, Giampietro PF. (2017). Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.  American Journal of Medical Genetics Part A. 173(10):2808-2813. doi: 10.1002/ajmg.a.38395.