Clinical utility gene card for: Alström syndrome
- 27 April 2011
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 19 (10) , 1108
- https://doi.org/10.1038/ejhg.2011.72
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
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- Alstrom syndrome (OMIM 203800): a case report and literature reviewOrphanet Journal of Rare Diseases, 2007
- Alström SyndromeEuropean Journal of Human Genetics, 2007
- Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndromeHuman Mutation, 2007
- Syndromic Obesity and Diabetes: Changes in Body Composition with Age and Mutation Analysis of ALMS1 in 12 United Kingdom Kindreds with Alström SyndromeJournal of Clinical Endocrinology & Metabolism, 2006
- Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndromeNature Genetics, 2002
- Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeNature Genetics, 2002