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Paper Details

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet
110
2014
CdLS, Cornelia de Lange syndrome, HDAC8, HDAC8 mutations, NIPBL, RAD21 genes, SMC1A, SMC1A, SMC3 and RAD21 genes, SMC3, X-, X-linked gene, X-linked gene HDAC8, cohesin complex proteins, cohesin regulatory protein, cohesin subunit, dental anomalies, distal limb anomalies, gastrointestinal and neurological disease, growth failure, hooding of the eyelids, human, hypertelorism, intellectual disability, large fontanelle, lysine, lysine deacetylase, multisystem genetic disorder, ocular hypertelorism, peripheral blood DNA

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