title: A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
authors.affiliation: Department of Dermatology at No.1 Hospital, Institute of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Liangdan
authors.initials: L
authors.lastname: Sun
mesh_terms: D003635:De Lange Syndrome / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006655:Histone Deacetylases / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D012097:Repressor Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D012097:Repressor Proteins; C409470:HDAC8 protein, human; D006655:Histone Deacetylases
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