Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years

We report a patient with one deletion and one mutation of the BMPER gene who has features most consistent with DSD but who has survived to age 9 years. Survival suggests that DSD and ISD reflect a spectrum of severity of one disease process.

Source: American Journal of Medical Genetics Part A - August 17, 2017 Category: Genetics & Stem Cells Authors: Janet M. Legare, Kristin Seaborg, Jennifer Laffin, Philip F. Giampietro Tags: CLINICAL REPORT Source Type: research