Article
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
American journal of human genetics - 1 Apr 2009
Firth Helen V, Richards Shola M, Bevan A Paul, Clayton Stephen, Corpas Manuel, Rajan Diana, Van Vooren Steven, Moreau Yves, Pettett Roger M, Carter Nigel P
Abstract excerpt
Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. However, many aberrations are novel or extremely rare, making clinical interpretation problematic and genotype-phenotype correlations uncertain. Identification of patients sharing a genomic...
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