A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

@article{Turnpenny1999AGF,
  title={A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.},
  author={Peter Turnpenny and Michael P. Bulman and Timothy M. Frayling and T K Abu-Nasra and Christine Garrett and Andrew T Hattersley and Sian Ellard},
  journal={American journal of human genetics},
  year={1999},
  volume={65 1},
  pages={175-82}
}
In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple hemivertebrae and rib fusions. SD can be familial, and both autosomal dominant and autosomal recessive (AR) inheritance have been reported, but no genes have been identified or localized for nonsyndromic SD in humans. We performed genomewide scanning by homozygosity mapping in a large… CONTINUE READING