Literature DB >> 6793979

Waardenburg's syndrome: variations in expressivity.

L Wang, C S Karmody, H Pashayan.   

Abstract

Twenty-seven subjects with a family history of Waardenburg's syndrome were examined with respect to 18 specific characteristics of the syndrome, with particular emphasis in identifying the spectrum of the phenotypic expression of affected persons. Our results indicate that patients with the syndrome may have a variety of clinical signs, and an accurate diagnosis will therefore depend on a thorough and pertinent family history and physical examination.

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Year:  1981        PMID: 6793979     DOI: 10.1177/019459988108900428

Source DB:  PubMed          Journal:  Otolaryngol Head Neck Surg        ISSN: 0194-5998            Impact factor:   3.497


  2 in total

1.  Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Authors:  J H Asher; R Morell; T B Friedman
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

2.  Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Authors:  J H Asher; T B Friedman
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

  2 in total

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