{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:04:00Z","timestamp":1759730640176},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,8,3]],"date-time":"2007-08-03T00:00:00Z","timestamp":1186099200000},"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":[[2007,10]]},"abstract":"<jats:p>Alstr\u00f6m syndrome is a rare, autosomal recessive disorder characterized by a wide spectrum of clinical features including early\u2010onset retinal degeneration leading to blindness, sensorineural hearing loss, short stature, obesity, type 2 diabetes, hyperlipidemia and dilated cardiomyopathy. Renal, hepatic and pulmonary dysfunction may occur in the later phases of the disease. The three affected sisters, from a consanguineous Turkish family, with the characteristic features of Alstr\u00f6m syndrome, were clinically diagnosed in 1987 and followed for 20\u2003years. DNA sequence analysis of <jats:italic>ALMS1<\/jats:italic>, the causative gene in Alstr\u00f6m syndrome, identified a novel homozygous disease\u2010causing mutation, c.8164C&gt;T, resulting in a premature termination codon in exon 10 in each of the three affected sisters. Furthermore, we describe the longitudinal disease progression in this family and report new clinical findings likely associated with Alstr\u00f6m syndrome, such as pes planus and hyperthyroidism.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00848.x","type":"journal-article","created":{"date-parts":[[2007,8,7]],"date-time":"2007-08-07T02:42:08Z","timestamp":1186454528000},"page":"351-356","source":"Crossref","is-referenced-by-count":16,"title":["Molecular analysis and long\u2010term clinical evaluation of three siblings with Alstr\u00f6m syndrome"],"prefix":"10.1111","volume":"72","author":[{"given":"RK","family":"\u00d6zg\u00fcl","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Satman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"GB","family":"Collin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"EG","family":"Hinman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JD","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Kocaman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"T\u00fct\u00fcnc\u00fc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JK","family":"Naggert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,8,3]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"1","article-title":"Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence\u2010Moon\u2010Bardet\u2010Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree","volume":"34","author":"Alstr\u00f6m CH","year":"1959","journal-title":"Acta Psychiatr Neurol Scand"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.165.6.675"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.5.1581"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng874"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng867"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<150::AID-AJMG9>3.0.CO;2-Y"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8227(02)00004-9"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.2334\/josnusd.43.221"},{"key":"e_1_2_5_10_2","first-page":"E217","article-title":"Glucose clamps technique: a method for quantifying insulin secretion and resistance","volume":"237","author":"DeFronzo RA","year":"1979","journal-title":"Am J Physiol"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.7.e8"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.9.590"},{"key":"e_1_2_5_13_2","first-page":"175","article-title":"Renal involvement in the Laurence\u2010Moon\u2010Bardet\u2010Biedl syndrome. 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