Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment.

@article{stergaard2012FurtherDO,
  title={Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment.},
  author={John Rosendahl \Ostergaard and Jesper Graakj{\ae}r and Carsten Brandt and Niels Holtum Birkeb{\ae}k},
  journal={European journal of medical genetics},
  year={2012},
  volume={55 1},
  pages={22-6}
}
Recently, a 17p13.3 microdeletion syndrome characterized by significant postnatal growth retardation, mild to moderate mental retardation and facial dysmorphic manifestations has been delineated to a small region within the area of the Miller-Dieker syndrome critical region. We report a boy with a 284 kb deletion within the Miller-Dieker critical region including CRK, but not involving YWHAE and TUSC5. He showed mental retardation and had significant postnatal growth retardation. Further, he… CONTINUE READING

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