Clinical utility gene card for: Alström syndrome-Reference-Cited by-同舟云学术

Clinical utility gene card for: Alström syndrome

Published:2011-04-27 Issue:10 Volume:19 Page:1108-1108
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Marshall Jan D,Maffei Pietro,Beck Sebastian,Barrett Timothy G,Paisey Richard B

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201172.pdf

Reference8 articles.

1. Marshall JD, Hinman EG, Collin GB et al: Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat 2007; 28: 1114–1123.

2. Joy T, Cao H, Black G et al: Alström syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2002; 2: 49.

3. Hearn T, Renforth GL, Spalluto C et al: Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet 2002; 31: 79–83.

4. Aldahmesh MA, Abu-Safieh L, Khan AO et al: Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A 2009; 149A: 662–665.

5. Prevention Genetics ( http://preventiongenetics.com/ClinicalTesting/TestDescriptions/alms1.pdf ), Alström Syndrome via ALMS1 Gene Sequencing (Test #265).

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