Condition: CORNELIA DE LANGE SYNDROME 5
rs1057516037 in
HDAC8 gene and
CORNELIA DE LANGE SYNDROME 5
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
PMID 26725122 2016 NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
PMID 27159028 2016 Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
PMID 24375697 2014 DIAMUND: direct comparison of genomes to detect mutations.