Article
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Nature genetics - 1 Apr 2000
Bulman M P, Kusumi K, Frayling T M, McKeown C, Garrett C, Lander E S, Krumlauf R, Hattersley A T, Ellard S, Turnpenny P D
Abstract excerpt
Spondylocostal dysostosis (SD, MIM 277300) is a group of vertebral malsegmentation syndromes with reduced stature resulting from axial skeletal defects. SD is characterized by multiple hemivertebrae, rib fusions and deletions with a non-progressive kyphoscoliosis. Cases may be sporadic or familial, with both autosomal dominant and autosomal recessive modes of inheritance reported. Autosomal recessive SD maps to a...
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