title: A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].
authors.affiliation: Clinical Genetics Department, University Hospitals Leicester NHS Trust, , Leicester, UK.
authors.forename: G E
authors.initials: GE
authors.lastname: Jones
authors.forename: G A
authors.initials: GA
authors.lastname: Tanteles
authors.forename: P C
authors.initials: PC
authors.lastname: Vasudevan
authors.forename: H
authors.initials: H
authors.lastname: Porter
authors.forename: L
authors.initials: L
authors.lastname: Robertson
mesh_terms: D001344:Autopsy; D018797:Cell Cycle Proteins; D004252:DNA Mutational Analysis; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D005865:Gestational Age; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D011247:Pregnancy; D011506:Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins
keywords: DNA; GENETICS; POSTMORTEM; PREGNANCY