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He has the characteristic phenotype of the disease with right facial nerve palsy and syndactyly and the typical radiological features, including generalised bone sclerosis and cortical widening of the tubular bones.<\/jats:p>","DOI":"10.1136\/jmg.31.12.976","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"976-977","source":"Crossref","is-referenced-by-count":25,"title":["Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin."],"prefix":"10.1136","volume":"31","author":[{"given":"M","family":"Bueno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Oliv\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Garagorri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Sarr\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A L","family":"Bueno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"M","family":"Bueno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F J","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,12,1]]},"reference":[{"key":"ref_1","first-page":"223","article-title":"International Working Group on Constitutional Diseases of Bone. 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Klin Monatsbl Augenheilkd 1958;132:509-25.","journal-title":"Klin Monatsbl Augenheilkd"},{"key":"ref_9","first-page":"825","article-title":"Sclerosteosisa marker of Dutch ancestry?","volume":"5","author":"de Paes A, Freire; JL, Canela; L, Cardoso; M, Marcilio","year":"1982","unstructured":"Freire de Paes A, Canela JL, Cardoso L, Marcilio M. Sclerosteosisa marker of Dutch ancestry? Rev Brasil Genet 1982;5:825-34.","journal-title":"Rev Brasil Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/BF01106087","article-title":"Sclerosing bone dysplasia - a target-site approach","volume":"20","author":"Greenspan, A.","year":"1991","unstructured":"Greenspan A. Sclerosing bone dysplasia - a target-site approach. 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