title: De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.
authors.affiliation: Departments of aClinical GeneticsbMolecular Genetics, Royal Devon and Exeter NHS Foundation Trust, ExetercDepartment of Neonatology, Corniche Hospital, Abu Dhabi, United Arab Emirates.
authors.forename: Lettie E
authors.initials: LE
authors.lastname: Rawlins
authors.forename: Karen L
authors.initials: KL
authors.lastname: Stals
authors.forename: Julian D
authors.initials: JD
authors.lastname: Eason
authors.forename: Peter D
authors.initials: PD
authors.lastname: Turnpenny
mesh_terms: D000483:Alleles; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D018389:Codon, Nonsense; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D005838:Genotype; D065630:Hernias, Diaphragmatic, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000175:diagnosis* / Q000235:genetics*; D008780:Methyltransferases / Q000235:genetics*; D010641:Phenotype; D000073336:Whole Genome Sequencing
chemical_list: D018389:Codon, Nonsense; D008780:Methyltransferases; C000588437:SETD5 protein, human