Journal article
Clinical variability and genetic heterogeneity within the Acadian Usher population
American journal of medical genetics, Vol.43(6), pp.964-969
08/01/1992
DOI: 10.1002/ajmg.1320430612
PMID: 1415347
Abstract
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 Type 1 and Type 2 can be identified. One additional family, with unusual findings, represents a third clinical phenotype. Linkage data strongly support these clinical observations. © 1992 Wiley‐Liss, Inc.
Details
- Title: Subtitle
- Clinical variability and genetic heterogeneity within the Acadian Usher population
- Creators
- Richard J. H SmithMary Z PeliasStephen P DaigerBronya KeatsWilliam KimberlingJ. Fielding Hejtmancik
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.43(6), pp.964-969
- DOI
- 10.1002/ajmg.1320430612
- PMID
- 1415347
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley; New York
- Number of pages
- 6
- Language
- English
- Date published
- 08/01/1992
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984007187502771
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