Article
Molecular analysis of congenital scoliosis: a candidate gene approach.
Human genetics - 1 Apr 2005
Maisenbacher Melissa K, Han Ji-Soo, O'brien Megan L, Tracy Michael R, Erol Bülent, Schaffer Alyssa A, Dormans John P, Zackai Elaine H, Kusumi Kenro
Abstract excerpt
The etiology of congenital scoliosis is largely unknown. The severe vertebral disorder, spondylocostal dysostosis type 1, is associated with a homozygous delta-like 3 (DLL3) mutation. Scoliosis has been observed in a heterozygous DLL3 carrier, raising the possibility of its involvement in congenital scoliosis. We present the first molecular study of congenital scoliosis by analysis of the candidate gene DLL3 and...
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