Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
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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;