Home > A. Molecular pathology > BMPER
BMPER
MIM.608699 7p14.3
Friday 30 December 2011
Pathology
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). (MIM.608022)
References
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E. Am J Med Genet A. 2011 Nov;155A(11):2801-6. PMID: 21990102
