{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T09:25:29Z","timestamp":1751275529827},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,7,18]],"date-time":"2011-07-18T00:00:00Z","timestamp":1310947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:p>Al\u2010Owain M, Imtiaz F, Shuaib T, Edrees A, Al\u2010Amoudi M, Sakati N, Al\u2010Hassnan Z, Bamashmous H, Rahbeeni Z, Al\u2010Ameer S, Faqeih E, Meyer B, Al\u2010Hashem A, Garout W, Al\u2010Odaib A, Rashed M, Al\u2010Aama JY. Smith\u2013Lemli\u2013Opitz syndrome among Arabs.<\/jats:p><jats:p>Smith\u2013Lemli\u2013Opitz syndrome (SLOS) is an autosomal recessive disorder of variable presentation caused by the deficiency of the 3<jats:italic>\u03b2<\/jats:italic>\u2010 hydroxycholesterol \u0394<jats:sup>7<\/jats:sup>\u2010 reductase. Over the past 10 years, our biochemical laboratory has screened 191 plasma samples for possible SLOS, measuring the plasma cholesterol and 7\u2010dehydrocholesterol using gas chromatography\u2013mass spectrometry (GC\u2010MS). The SLOS was confirmed in only five Arab patients with growth retardation, global developmental delay, dysmorphic features, and 2\u20133 toe syndactyly, among other findings. All cases represented moderate to severe form of SLOS. One patient had a unique cardiovascular malformation (cor triatriatum with significant obstruction of the right pulmonary veins). Two previously reported N287K (861 C&gt;A) and R352Q (1055 G&gt;A) and a novel R352L (1055 G&gt;T) mutations were identified in the <jats:italic>DHCR7<\/jats:italic> gene in these patients. The paper sheds light on this rare disease among Arabs and reviews all reported SLOS cases in the Arab population.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01742.x","type":"journal-article","created":{"date-parts":[[2011,6,23]],"date-time":"2011-06-23T09:59:01Z","timestamp":1308823141000},"page":"165-172","source":"Crossref","is-referenced-by-count":7,"title":["Smith\u2013Lemli\u2013Opitz syndrome among 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