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Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

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Title: Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Authors: Villate O; Biocruces Health Research Institute, Barakaldo, Spain.; Molecular Genetics Laboratory, Genetics Service, Cruces University Hospital, Barakaldo, Spain., Ibarluzea N; Biocruces Health Research Institute, Barakaldo, Spain., Fraile-Bethencourt E; Splicing and Cancer Laboratory, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas, Universidad de Valladolid, Valladolid, Spain., Valenzuela A; Splicing and Cancer Laboratory, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas, Universidad de Valladolid, Valladolid, Spain., Velasco EA; Splicing and Cancer Laboratory, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas, Universidad de Valladolid, Valladolid, Spain., Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Botella MP; Department of Pediatrics, Araba University Hospital, Vitoria, Spain., Tejada MI; Biocruces Health Research Institute, Barakaldo, Spain.; Molecular Genetics Laboratory, Genetics Service, Cruces University Hospital, Barakaldo, Spain.; Clinical Group, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
Source: Frontiers in genetics [Front Genet] 2018 Jan 26; Vol. 9, pp. 7. Date of Electronic Publication: 2018 Jan 26 (Print Publication: 2018).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:1664-8021
DOI:10.3389/fgene.2018.00007