{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T05:04:23Z","timestamp":1767675863187,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1969,3]]},"DOI":"10.1136\/jmg.6.1.14","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:49:07Z","timestamp":1226328547000},"page":"14-21","source":"Crossref","is-referenced-by-count":13,"title":["Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome."],"prefix":"10.1136","volume":"6","author":[{"given":"M C","family":"Mengel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B W","family":"Konigsmark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C I","family":"Berlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V A","family":"McKusick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1969,3,1]]},"reference":[{"issue":"129","key":"ref_1","first-page":"1","article-title":"Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness","volume":"34","author":"Alstrom, C.H.; Hallgren, B.; Nilsson, L.B.; Asander, H.","year":"1959","unstructured":"Alstrom, C. H., Hallgren, B., Nilsson, L. B., and Asander, H. (1959). Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. Acta psychiat. scand., 34, Suppl. 129, 1.","journal-title":"Acta psychiat. scand"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1001\/archotol.1962.00740050413004","article-title":"Deafness with sporadic goiter: Pendred's syndrome","volume":"76","author":"Batsakis, J.G.; Nishiyama, R.H.","year":"1962","unstructured":"Batsakis, J. G., and Nishiyama, R. H. (1962). Deafness with sporadic goiter: Pendred's syndrome. Arch. Otolaryng., 76, 401.","journal-title":"Arch. Otolaryng"},{"key":"ref_3","article-title":"and The Staff of the Hearing and Speech","author":"Berlin, C.I.","year":"1965","unstructured":"Berlin, C. I. and The Staff of the Hearing and Speech Center (1965). Manual of Standard Operating Procedures. The Johns Hopkins Medical Institutions, Baltimore.","journal-title":"Center; Manual of Standard Operating Procedures"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0022-3476(62)80005-5","article-title":"Familial nephrosis associated with deafness and congenital urinary tract anomalies in siblings","volume":"60","author":"Braun, F.C.; Bayer, J.F.","year":"1962","unstructured":"Braun, F. C., and Bayer, J. F. (1962). Familial nephrosis associated with deafness and congenital urinary tract anomalies in siblings. Pediat., 60, 33.","journal-title":"Pediat"},{"key":"ref_5","first-page":"14","article-title":"Congenital heart disease, deafness, and skeletal malformations: A new syndrome ?","volume":"68","author":"Forney, W.R.; Robinson, S.J.; Pascoe, D.J.","year":"1966","unstructured":"Forney, W. R., Robinson, S. J., and Pascoe, D. J. (1966'. Congenital heart disease, deafness, and skeletal malformations: A new syndrome ? ibid., 68, 14.","journal-title":"ibid"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1136\/bmj.2.4952.1354","article-title":"Hereditary deafness in family with ear-pits (fistula auris congenita)","volume":"2","author":"Fourman, P.; Fourman, J.","year":"1955","unstructured":"Fourman, P., and Fourman, J. (1955). Hereditary deafness in family with ear-pits (fistula auris congenita). Brit. med. J., 2, 1354.","journal-title":"Brit. med. J"},{"key":"ref_7","first-page":"361","article-title":"Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death. A recessive syndrome","volume":"33","author":"Fraser, G.R.; Froggatt, P.; James, T.N.","year":"1964","unstructured":"Fraser, G. R., Froggatt, P., and James, T. N. (1964). Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death. A recessive syndrome. Quart. J7. Med., 33, 361.","journal-title":"Quart. J7. Med"},{"key":"ref_8","article-title":"Deafness and the Treacher Collins syndrome","author":"Holborow, C.A.","year":"1961","unstructured":"Holborow, C. A. (1961). Deafness and the Treacher Collins syndrome."},{"key":"ref_9","first-page":"336","article-title":"Hereditary deafness","volume":"68","author":"Konigsmark, B.W.; McKusick, V.A.","year":"1966","unstructured":"Konigsmark, B. W., and McKusick, V. A. (1966). Hereditary deafness. Volta Rev., 68, 336.","journal-title":"Volta Rev"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1136\/jnnp.13.4.307","article-title":"Familial ataxia, deaf-mutism, and muscular wasting","volume":"13","author":"Matthews, W.B.","year":"1950","unstructured":"Matthews, W. B. (1950). Familial ataxia, deaf-mutism, and muscular wasting. J. Neurol. Neurosurg. Psychiat., 13, 307.","journal-title":"J. Neurol. Neurosurg. Psychiat"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1093\/oxfordjournals.jhered.a104373","article-title":"A hereditary ear malformation transmitted through five generations","volume":"28","author":"Potter, E.L.","year":"1937","unstructured":"Potter, E. L. (1937). A hereditary ear malformation transmitted through five generations. J. Hered., 28, 255.","journal-title":"J. Hered"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1001\/archotol.1967.00760040025007","article-title":"Understanding hereditary nerve deafness","volume":"85","author":"Procter, C.A.; Procter, B.","year":"1967","unstructured":"Procter, C. A., and Procter, B. (1967). Understanding hereditary nerve deafness. Arch. Otolaryng., 85, 23.","journal-title":"Arch. Otolaryng"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1542\/peds.30.5.797","article-title":"Familial ectodermal dysplasia with sensori-neural deafness and other anomalies","volume":"30","author":"Robinson, G.C.; Miller, J.R.; Bensimon, J.R.","year":"1962","unstructured":"Robinson, G. C., Miller, J. R., and Bensimon, J. R. (1962). Familial ectodermal dysplasia with sensori-neural deafness and other anomalies. Pediatrics, 30, 797.","journal-title":"Pediatrics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"553","DOI":"10.3109\/00016486209126973","article-title":"Hereditary malformations of the ear in three generations","volume":"54","author":"Wildervanck, L.S.","year":"1962","unstructured":"Wildervanck, L. S. (1962). Hereditary malformations of the ear in three generations. Acta oto-laryng. (Stockh.), 54, 553.","journal-title":"Acta oto-laryng. (Stockh.)"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.6.1.14","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:02:16Z","timestamp":1759687336000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.6.1.14"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1969,3]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1969,3,1]]},"published-print":{"date-parts":[[1969,3]]}},"alternative-id":["10.1136\/jmg.6.1.14"],"URL":"https:\/\/doi.org\/10.1136\/jmg.6.1.14","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1969,3]]}}}