BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.
Zong Z, Tees S, Miyanji F, Fauth C, Reilly C, Lopez E, Tredwell S, Paul Goldberg Y, Delaney A, Eydoux P, Van Allen M, Lehman A.
Zong Z, et al.
J Hum Genet. 2015 Dec;60(12):743-7. doi: 10.1038/jhg.2015.116. Epub 2015 Oct 15.
J Hum Genet. 2015.
PMID: 26467725
Clinical Trial.
Diaphanospondylodysostosis (DSD), caused by loss of bone morphogenetic protein-binding endothelial regulator (BMPER), has been considered a lethal skeletal dysplasia characterized by severe deficiency of vertebral body and sacral ossification, reduced rib number and …
Diaphanospondylodysostosis (DSD), caused by loss of bone morphogenetic protein-binding endothelial regulator (BMPER), has been considered a …