| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5589624 | Gene | 2017 | 5 Pages |
Abstract
We thus propose that partial SHOX duplications and small duplications encompassing CNE-9 enhancer could be highly penetrant alleles associated with ISS and LWD development.
Keywords
CNVConserved non-coding elementsCNESHOXDGVDatabase of chromosomal imbalance and phenotype in humans using Ensembl ResourcesPAR1MRKHLMDMLPAISSLWDASMTEnhancerstandard deviationmultiplex ligation-dependent probe amplificationduplicationMayer-Rokitansky-Kuster-Hauser syndromeDECIPHERIdiopathic short statureCopy number variantpenetranceDatabase of genomic variantsPolymorphism
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Authors
Katerina Hirschfeldova, Roman Solc,