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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