A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

Background/Aims: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder classically characterized by distinctive facies, growth retardation, intellectual disability, feeding difficulties, and multiple organ system anomalies. Previously, the diagnosis of CdLS was based mainly on identifying the...

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Veröffentlicht in:	Cellular physiology and biochemistry 2018-01, Vol.47 (6), p.2388-2395
Hauptverfasser:	Gao, Xueren, Huang, Zhuo, Fan, Yanjie, Sun, Yu, Liu, Huili, Wang, Lili, Gu, Xue-Fan, Yu, Yongguo
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Amino Acid Substitution Chromosomes Cornelia de Lange Syndrome De Lange Syndrome - diagnosis De Lange Syndrome - genetics De Lange Syndrome - pathology Deoxyribonucleic acid DNA DNA methylation Enzymatic activity Female Gene expression Gene mutation Genetic Markers Genetic testing Genotype & phenotype HDAC8 Histone Deacetylases - genetics Humans Infant Intellectual disabilities Medical diagnosis Microcephaly Mutation Mutation, Missense Original Paper Paternity Patients Proteins Repressor Proteins - genetics X-chromosome inactivation
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