Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

@article{Juyal1996MolecularAO,
  title={Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.},
  author={Ramesh C. Juyal and Luis Eduardo Figuera and Xueya Hauge and Sarah H Elsea and James R Lupski and Frank S. Greenberg and Antonio Baldini and Pragna I. Patel},
  journal={American journal of human genetics},
  year={1996},
  volume={58 5},
  pages={
          998-1007
        }
}
Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an interstitial deletion involving band p11.2 of chromosome 17. Toward the molecular definition of the interval defining this microdeletion syndrome, 62 unrelated SMS patients in conjunction with 70 available unaffected parents were molecularly analyzed with respect to the presence or absence of 14 loci in the proximal region of the short arm of chromosome 17. A… CONTINUE READING

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