Large-scale discovery of novel genetic causes of developmental disorders View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12-24

ABSTRACT

Up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis; here, in a systematic and nationwide study of 1,133 children with severe, undiagnosed developmental disorders, and their parents, exome sequencing and array-based detection of chromosomal rearrangements reveals novel genes causing developmental disorders, increasing the proportion of children that can now be diagnosed to 31%. More... »

PAGES

223-228

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nature14135

DOI

http://dx.doi.org/10.1038/nature14135

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007784461

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25533962


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