Sign Up to like & get
recommendations!
0
Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.004
Abstract: Diaphanospondylodysostosis (DSD) is a rare autosomal recessive skeletal disorder, characterized mainly by ossification defects in vertebrae, thorax malformations, renal cystic dysplasia and usually death in the perinatal period. DSD is caused by mutations in the…
read more here.
Keywords:
diaphanospondylodysostosis refining;
diagnosis rare;
skeletal disorder;