Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome

Author:

Marshall Jan D.,Hinman Elizabeth G.,Collin Gayle B.,Beck Sebastian,Cerqueira Rita,Maffei Pietro,Milan Gabriella,Zhang Weidong,Wilson David I.,Hearn Tom,Tavares Purificação,Vettor Roberto,Veronese Caterina,Martin Mitchell,So W. Venus,Nishina Patsy M.,Naggert Jürgen K.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree;Alström;Acta Psychiatr Neurol Scand,1959

2. Hearing impairment in three siblings with the Alström syndrome;Anzai;Practica Otologica,1985

3. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy;Bond;J Med Genet,2005

4. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome;Collin;Nat Genet,2002

5. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;den Dunnen;Hum Mutat,2000

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