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Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
Baquero-Montoya, C; Gil-Rodríguez, M C; Braunholz, D; Teresa-Rodrigo, M E; Obieglo, C; Gener, B; Schwarzmayr, T; Strom, T M; Gómez-Puertas, P; Puisac, B; Gillessen-Kaesbach, G; Musio, A; Ramos, F J; Kaiser, F J; Pié, J.
Affiliation
  • Baquero-Montoya C; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology, Physiology and Pediatrics, Medical School, University of Zaragoza, Zaragoza, Spain.
Clin Genet ; 86(6): 595-7, 2014 Dec.
Article in En | MEDLINE | ID: mdl-24635725
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / De Lange Syndrome / High-Throughput Nucleotide Sequencing / Mutation Type of study: Prognostic_studies Limits: Humans / Infant Language: En Journal: Clin Genet Year: 2014 Document type: Article Affiliation country: España
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / De Lange Syndrome / High-Throughput Nucleotide Sequencing / Mutation Type of study: Prognostic_studies Limits: Humans / Infant Language: En Journal: Clin Genet Year: 2014 Document type: Article Affiliation country: España