title: Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11).
authors.affiliation: Departments of General Nursery Biology and Genetics, Medical University of Gdansk, Poland.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Wierzba
authors.forename: Alina
authors.initials: A
authors.lastname: Kuzniacka
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ratajska
authors.forename: Beata Stefania
authors.initials: BS
authors.lastname: Lipska
authors.forename: Iwona
authors.initials: I
authors.lastname: Kardas
authors.forename: Mariola
authors.initials: M
authors.lastname: Iliszko
authors.forename: Janusz
authors.initials: J
authors.lastname: Limon
mesh_terms: D001483:Base Sequence; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D003635:De Lange Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007438:Introns; D007621:Karyotyping; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins; D022821:RNA Splice Sites