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Article

Clinical variability and genetic heterogeneity within the Acadian Usher population.

American journal of medical genetics - 1 Aug 1992

Smith R J, Pelias M Z, Daiger S P, Keats B, Kimberling W, Hejtmancik J F

Abstract excerpt

A number of Usher syndrome (USH) families are found among the French-Acadians living in southwestern Louisiana. These families are descended from a few common ancestors, suggesting that USH may be homogeneous within this ethnic group. However, we report distinct phenotypic variability. Based on differences in psychomotor development and tests of auditory and vestibular function, Acadian individuals with both USH...

Topics

Blindness
Chromosomes, Human, Pair 1
Ethnicity
Female
Genetic Markers
Hearing Disorders
Humans
Louisiana
Male
Pedigree
Phenotype
Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1415347
DOI: 10.1002/ajmg.1320430612

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1415347-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Clinical variability and genetic heterogeneity within the Acadian Usher population.PMID 1415347Read ↗

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The changing face of Usher syndrome: clinical implications.Semantic proximity Read ↗

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The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.Semantic proximity Read ↗

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