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  Genetics of recessive cognitive disorders

Musante, L., & Ropers, H.-H. (2014). Genetics of recessive cognitive disorders. Trends in Genetics, 30(1), 32-39. doi:10.1016/j.tig.2013.09.008.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-C1DB-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-C1DC-9
Genre: Journal Article

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Musante.pdf (Publisher version), 375KB
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© 2014 Elsevier B.V.
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 Creators:
Musante, Luciana1, Author              
Ropers, Hans-Hilger2, Author              
Affiliations:
1Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: Cognition Disorders/genetics Consanguinity Genes, Recessive Genes, X-Linked Genetic Linkage Genetic Loci Humans Intellectual Disability/genetics Mutation
 Abstract: 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 elucidation has lagged behind. Here we review recent progress in this field, show that ARID is not rare even in outbred Western populations, and discuss the prospects for improving its diagnosis and prevention.

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Language(s): eng - English
 Dates: 2013-10-282014-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1016/j.tig.2013.09.008
ISSN: 0168-9525 (Print)0168-9525 (Print)
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Title: Trends in Genetics
  Other : Trends Genet.
Source Genre: Journal
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Publ. Info: Elsevier Current Trends
Pages: - Volume / Issue: 30 (1) Sequence Number: - Start / End Page: 32 - 39 Identifier: ISSN: 0168-9525
CoNE: https://pure.mpg.de/cone/journals/resource/954925485719