European Journal of Human Genetics - Clinical utility gene card for: Alstrom syndrome - update 2013

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European Journal of Human Genetics - Clinical utility gene card for: Alstrom syndrome - update 2013

Clinical Utility Gene Card Update

European Journal of Human Genetics advance online publication 24 April 2013; doi: 10.1038/ejhg.2013.61

Clinical utility gene card for: Alström syndrome - update 2013

Jan D Marshall¹, Pietro Maffei², Sebastian Beck³, Timothy G Barrett⁴, Richard Paisey⁵ and Jürgen K Naggert¹

1. ¹The Jackson Laboratory, Bar Harbor, ME, USA
2. ²Department of Medicine, Padua University Hospital, Padua, Italy
3. ³Praxis Blaues Haus, Kreuzlingen, Switzerland
4. ⁴School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
5. ⁵Torbay Hospital, Lawes Bridge, Torquay, UK

Correspondence: JD Marshall, The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA. Tel: +1 207 288 6385; Fax: +1 207 288 6078; E-mail: jan.marshall@jax.org

Update to: European Journal of Human Genetics (2011) 19, 1108; doi:10.1038/ejhg.2011.72; published online 27 April 2011

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Alström syndrome, ALMS.

1.2 OMIM# of the disease

203800.

1.3 Name of the analysed genes or DNA/chromosome segments

ALMS1.