title: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
authors.affiliation: Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology, Physiology and Pediatrics, Medical School, University of Zaragoza, Zaragoza, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Baquero-Montoya
authors.forename: M C
authors.initials: MC
authors.lastname: Gil-Rodríguez
authors.forename: D
authors.initials: D
authors.lastname: Braunholz
authors.forename: M E
authors.initials: ME
authors.lastname: Teresa-Rodrigo
authors.forename: C
authors.initials: C
authors.lastname: Obieglo
authors.forename: B
authors.initials: B
authors.lastname: Gener
authors.forename: T
authors.initials: T
authors.lastname: Schwarzmayr
authors.forename: T M
authors.initials: TM
authors.lastname: Strom
authors.forename: P
authors.initials: P
authors.lastname: Gómez-Puertas
authors.forename: B
authors.initials: B
authors.lastname: Puisac
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: A
authors.initials: A
authors.lastname: Musio
authors.forename: F J
authors.initials: FJ
authors.lastname: Ramos
authors.forename: F J
authors.initials: FJ
authors.lastname: Kaiser
authors.forename: J
authors.initials: J
authors.lastname: Pié
mesh_terms: D018797:Cell Cycle Proteins; D003635:De Lange Syndrome / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D007223:Infant; D009030:Mosaicism; D009154:Mutation; D011506:Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins