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. 2013 Nov;21(11).
doi: 10.1038/ejhg.2013.61. Epub 2013 Apr 24.

Clinical utility gene card for: Alström Syndrome - update 2013

Jan D Marshall  1 , Pietro Maffei, Sebastian Beck, Timothy G Barrett, Richard Paisey, Jürgen K Naggert
Affiliations

Clinical utility gene card for: Alström Syndrome - update 2013

Jan D Marshall et al. Eur J Hum Genet. 2013 Nov.
No abstract available

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References

    1. Marshall JD, Hinman EG, Collin GB, et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutation. 2007;28:1114–1123. - PubMed
    1. Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics. 2011;12:225–235. - PMC - PubMed
    1. Pereiro I, Hoskins BE, Marshall JD, et al. Arrayed Primer Extension (APEX) technology simplifies mutation detection in Bardet Biedl and Alström Syndrome. Eur J Hum Genet. 2011;19:485–488. - PMC - PubMed
    1. Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D. Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. Mol Vis. 2012;18:1794–1802. - PMC - PubMed
    1. Redin C, Le Gras S, Mhamdi O, et al. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes. J Med Genet. 2012;49:502–512. - PMC - PubMed

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