Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

@inproceedings{Rosenfeld2009SmallDO,
  title={Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome},
  author={Jill A Rosenfeld and Blake C. Ballif and Ann Lucas and Edward J. Spence and Cynthia K Powell and Arthur S. Aylsworth and Beth S. Torchia and Lisa Gail Shaffer},
  booktitle={PloS one},
  year={2009}
}
Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of… CONTINUE READING

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