References

These sources were used to develop the Genetics Home Reference condition summary on Alström syndrome.

Gene Review: Alstrom Syndrome
Goldstein JL, Fialkow PJ. The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore). 1973 Jan;52(1):53-71. PubMed citation
Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005 May 15;135(1):96-8. PubMed citation
Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis. 2007 Dec 21;2:49. Review. PubMed citation
Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N. The Alström syndrome: is it a rare or unknown disease? Ann Ital Med Int. 2002 Oct-Dec;17(4):221-8. Review. PubMed citation
Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007 Dec;15(12):1193-202. Epub 2007 Oct 17. PubMed citation
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005 Mar 28;165(6):675-83. PubMed citation
Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, Porter JR, Carey C, Hodge D, Paisey R, Walker M, Barrett TG. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. J Clin Endocrinol Metab. 2006 Aug;91(8):3110-6. Epub 2006 May 23. PubMed citation
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Alström syndrome. Report of 22 cases and literature review. Ophthalmology. 1998 Jul;105(7):1274-80. Review. PubMed citation


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