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2. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. Ozantürk A; Marshall JD; Collin GB; Düzenli S; Marshall RP; Candan Ş; Tos T; Esen İ; Taşkesen M; Çayır A; Öztürk Ş; Üstün İ; Ataman E; Karaca E; Özdemir TR; Erol İ; Eroğlu FK; Torun D; Parıltay E; Yılmaz-Güleç E; Karaca E; Atabek ME; Elçioğlu N; Satman İ; Möller C; Muller J; Naggert JK; Özgül RK J Hum Genet; 2015 Jan; 60(1):1-9. PubMed ID: 25296579 [TBL] [Abstract][Full Text] [Related]
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7. Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity. Dassie F; Favaretto F; Bettini S; Parolin M; Valenti M; Reschke F; Danne T; Vettor R; Milan G; Maffei P Endocrine; 2021 Mar; 71(3):618-625. PubMed ID: 33566311 [TBL] [Abstract][Full Text] [Related]
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11. Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. Nasser F; Weisschuh N; Maffei P; Milan G; Heller C; Zrenner E; Kohl S; Kuehlewein L Acta Ophthalmol; 2018 Jun; 96(4):e445-e454. PubMed ID: 29193673 [TBL] [Abstract][Full Text] [Related]
12. Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria. Casey J; McGettigan P; Brosnahan D; Curtis E; Treacy E; Ennis S; Lynch SA Eur J Med Genet; 2014 Feb; 57(2-3):55-9. PubMed ID: 24503146 [TBL] [Abstract][Full Text] [Related]
13. Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome. Liu L; Dong B; Chen X; Li J; Li Y Eye (Lond); 2009 May; 23(5):1210-2. PubMed ID: 18654604 [TBL] [Abstract][Full Text] [Related]
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