Genetics of recessive cognitive disorders.

@article{Musante2014GeneticsOR,
  title={Genetics of recessive cognitive disorders.},
  author={Luciana Musante and Hans Hilger Ropers},
  journal={Trends in genetics : TIG},
  year={2014},
  volume={30 1},
  pages={32-9}
}
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its… CONTINUE READING

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Genetic basis of intellectual disability

  • Ellison, J.W
  • Annu. Rev. Med
  • 2013

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