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Article

Genetics of recessive cognitive disorders.

Trends in genetics : TIG - 1 Jan 2014

Musante Luciana, Ropers H Hilger

Abstract excerpt

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...

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PMID: 24176302
DOI: 10.1016/j.tig.2013.09.008

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