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The parents are cousins of Turkish origin.<\/jats:p>","DOI":"10.1136\/jmg.28.1.56","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"56-59","source":"Crossref","is-referenced-by-count":19,"title":["Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies."],"prefix":"10.1136","volume":"28","author":[{"given":"C","family":"Braegger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Bottani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Hall\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Giedion","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Leumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Seger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U","family":"Willi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0022-3476(64)80264-X","article-title":"A newly recognized syndrome of multiple congenital anomalies","volume":"64","author":"Smith, D.W.; Lemli, L.; Opitz, J.M.","year":"1964","unstructured":"Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964;64:210-7.","journal-title":"J Pediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/j.1399-0004.1975.tb00345.x","article-title":"The pathological anatomy of the Smith-Lemli-Opitz syndrome","volume":"7","author":"Cherstvoy, E.D.; Lazjuk, G.I.; Luric, I.W.; Nedzved, M.K.; Usoev, S.S.","year":"1975","unstructured":"Cherstvoy ED, Lazjuk GI, Luric IW, Nedzved MK, Usoev SS. The pathological anatomy of the Smith-Lemli-Opitz syndrome. Clin Genet 1975;7:382-7.","journal-title":"Clin Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/S0022-5347(17)44188-7","article-title":"Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome","volume":"137","author":"Joseph, D.B.; Uehling, D.T.; Gilbert, E.; Laxova, R.","year":"1987","unstructured":"Joseph DB, Uehling DT, Gilbert E, Laxova R. 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