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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.
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PubMed
subject areas
Base Sequence
Child
Child, Preschool
Chromosome Breakpoints
Comparative Genomic Hybridization
De Lange Syndrome
DNA Copy Number Variations
Exons
Facies
Female
Gene Duplication
Genetic Association Studies
Histone Deacetylases
Humans
Phenotype
Repressor Proteins
Sequence Analysis, DNA
Sequence Deletion
X Chromosome Inactivation
authors with profiles
Daniela Del Gaudio
Soma Das