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Pendred              V            . Deaf-mutism and goiter.            Lancet 1896; 148: 532.","DOI":"10.1016\/S0140-6736(01)74403-0"},{"key":"2","first-page":"607","volume":"1","year":"1958","unstructured":"2.               Morgans              ME            ,               Trotter              WR            . Association of congenital deafness with goitre;            the nature of the thyroid defect.            Lancet 1958; 1:            607\u2013609.","journal-title":"The Lancet","ISSN":"https:\/\/id.crossref.org\/issn\/0140-6736","issn-type":"print"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3.               Fraser              GR            . Association of congenital deafness with goitre            (Pendred\u2019s syndrome) a study of 207 families. Ann Hum            Genet 1965; 28:            201\u2013249.","DOI":"10.1111\/j.1469-1809.1964.tb00479.x"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4.               Sheffield              VC            ,               Kraiem              Z            ,               Beck              JC            , et al. Pendred syndrome maps to            chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine            organification. Nat Genet 1996;            12: 424\u2013426.","DOI":"10.1038\/ng0496-424"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5.               Everett              LA            ,               Glaser              B            ,               Beck              JC            , et al. Pendred syndrome is caused by            mutations in a putative sulphate transporter gene (PDS). Nat            Genet 1997; 17:            411\u2013422.","DOI":"10.1038\/ng1297-411"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6.               Usami              S            ,               Abe              S            ,               Weston              MD            , et al. Non-syndromic hearing loss            associated with enlarged vestibular aqueduct is caused by PDS mutations.            Hum Genet 1999; 104:            188\u2013192.","DOI":"10.1007\/s004390050933"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7.               Miyagawa              M            ,               Nishio              SY            ,               Usami              S            . Deafness Gene Study            ConsortiumMutation spectrum and genotype-phenotype            correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a            large cohort study. J Hum Genet 2014;            59: 262\u2013268.","DOI":"10.1038\/jhg.2014.12"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8.               Scott              DA            ,               Wang              R            ,               Kreman              TM            , et al. 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Ladsous              M            ,               Vlaeminck-Guillem              V            ,               Dumur              V            , et al. Analysis of the thyroid            phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the            vestibular aqueduct. Thyroid 2014;            24: 639\u2013648.","DOI":"10.1089\/thy.2013.0164"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14.               Iosco              C            ,               Cosentino              C            ,               Sirna              L            , et al. Anoctamin 1 is apically            expressed on thyroid follicular cells and contributes to ATP- and calcium-activated            iodide efflux. Cell Physiol Biochem 2014;            34: 966\u2013980.","DOI":"10.1159\/000366313"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15.               Fugazzola              L            ,               Cerutti              N            ,               Mannavola              D            , et al. Differential diagnosis            between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular            studies. Pediatr Res 2002;            51: 479\u2013484.","DOI":"10.1203\/00006450-200204000-00013"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16.               Fugazzola              L            ,               Mannavola              D            ,               Cerutti              N            , et al. Molecular analysis of the            Pendred\u2019s syndrome gene and magnetic resonance imaging studies of the inner ear are            essential for the diagnosis of true Pendred\u2019s syndrome. J Clin            Endocrinol Metab 2000; 85:            2469\u20132475.","DOI":"10.1210\/jc.85.7.2469"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17.               Tsukamoto              K            ,               Suzuki              H            ,               Harada              D            , et al. Distribution and frequencies            of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated            with enlarged vestibular aqueduct: a unique spectrum of mutations in            Japanese. Eur J Hum Genet 2003;            11: 916\u2013922.","DOI":"10.1038\/sj.ejhg.5201073"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18.               Bogazzi              F            ,               Russo              D            ,               Raggi              F            , et al. Mutations in the SLC26A4            (pendrin) gene in patients with sensorineural deafness and enlarged vestibular            aqueduct. J Endocrinol Invest 2004;            27: 430\u2013435.","DOI":"10.1007\/BF03345286"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19.               Soh              LM            ,               Druce              M            ,               Grossman              AB            , et al. Evaluation of            genotype-phenotype relationships in patients referred for endocrine assessment in            suspected Pendred syndrome. Eur J            Endocrinol 2015; 172:            217\u2013226.","DOI":"10.1530\/EJE-14-0679"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20.               Suzuki              H            ,               Oshima              A            ,               Tsukamoto              K            , et al. Clinical characteristics and            genotype-phenotype correlation of hearing loss patients with SLC26A4            mutations. Acta Otolaryngol 2007;            127: 1292\u20131297.","DOI":"10.1080\/00016480701258739"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21.               Asakura              Y            ,               Narumi              S            ,               Muroya              K            , et al. A patient with Pendred            syndrome whose goiter progressed with normal serum thyrotropin and iodine            organification. 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