X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.

@article{McPherson1995XlinkedAR,
  title={X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.},
  author={Elizabeth W. McPherson and Mark W. Clemens and Richard J. Gibbons and Douglas R Higgs},
  journal={American journal of medical genetics},
  year={1995},
  volume={55 3},
  pages={302-6}
}
We report a new kindred containing 4 patients with X-linked alpha-thalassemia/mental retardation syndrome ((ATR-X). Like previously reported ATR-X patients, these children are all genetic males with severe developmental delay and characteristic facial appearance. The genital anomalies are more severe than in most previous cases and have led to a female sex of rearing for 3 of the 4 patients. The hematologic expression is extremely mild and was not demonstrable on routine hematologic studies… CONTINUE READING

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