title: Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.
authors.affiliation: Faculty of Science, Centre for Biodiversity, Functional and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal.
authors.forename: Helena
authors.initials: H
authors.lastname: Simões-Teixeira
authors.forename: Tiago D
authors.initials: TD
authors.lastname: Matos
authors.forename: Marta Canas
authors.initials: MC
authors.lastname: Marques
authors.forename: Oscar
authors.initials: O
authors.lastname: Dias
authors.forename: Mário
authors.initials: M
authors.lastname: Andrea
authors.forename: Eduardo
authors.initials: E
authors.lastname: Barreiros
authors.forename: Luís
authors.initials: L
authors.lastname: Barreiros
authors.forename: Felipe
authors.initials: F
authors.lastname: Moreno
authors.forename: Graça
authors.initials: G
authors.lastname: Fialho
authors.forename: Helena
authors.initials: H
authors.lastname: Caria
authors.forename: Ignacio
authors.initials: I
authors.lastname: Del Castillo
mesh_terms: D001483:Base Sequence; D002648:Child; D003241:Consanguinity; D006044:Goiter, Nodular / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011174:Portugal; D022821:RNA Splice Sites / Q000235:genetics*; D011859:Radiography; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000000981:diagnostic imaging / Q000473:pathology; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; D022821:RNA Splice Sites; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters