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Article

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

American journal of medical genetics - 12 Dec 1997

Marshall J D, Ludman M D, Shea S E, Salisbury S R, Willi S M, LaRoche R G, Nishina P M

Abstract excerpt

We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 nuclear families within this kindred. The phenotype includes early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. In addition, hyperinsulinemia and hypertriglyceridemia with...

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Identifiers

PMID: 9409865
DOI: 10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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