ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits
Author:
Funder
Swansea University
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Drug Discovery,Molecular Medicine
Link
http://link.springer.com/article/10.1007/s00109-018-1714-x/fulltext.html
Reference187 articles.
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2. Marshall JD, Maffei P, Collin GB, Naggert JK (2011) Alstrom syndrome: genetics and clinical overview. Curr Genomics 12:225–235
3. Marshall JD, Beck S, Maffei P, Naggert JK (2007) Alstrom Syndrome. Eur J Hum Genet 15:1193–1202
4. 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 (2005) New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 165:675–683
5. Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M (2016) Respiratory manifestations in 38 patients with Alstrom syndrome. Pediatr Pulmonol 52:487–493
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