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Article

New Alström syndrome phenotypes based on the evaluation of 182 cases.

Archives of internal medicine - 28 Mar 2005

Marshall Jan D, Bronson Roderick T, Collin Gayle B, Nordstrom Anne D, Maffei Pietro, Paisey Richard B, Carey Catherine, Macdermott Seamus, Russell-Eggitt Isabelle, Shea Sarah E, Davis Judy, Beck Sebastian, Shatirishvili Gocha, Mihai Cristina Maria, Hoeltzenbein Maria, Pozzan Giovanni Battista, Hopkinson Ian, Sicolo Nicola, Naggert Jürgen K, Nishina Patsy M

Abstract excerpt

BACKGROUND: Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity, insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic, hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alström syndrome and describe the histopathologic findings in...

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Identifiers

PMID: 15795345
DOI: 10.1001/archinte.165.6.675

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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