Literature DB >> 105123

Ophthalmological findings in 34 patients with Waardenburg syndrome.

J W Delleman, M J Hageman.   

Abstract

In the Netherlands five families with 34 previously unreported patients with Waardenburg syndrome were traced. Twenty-three patients with the syndrome including dystopia canthorum (Type I) were ophthalmologically examined and three patients with the syndrome without dystopia canthorum (Type II) were also examined. Ten of the 15 patients with pigmentary disorders of the iris also showed a shortage of pigment in the retina. Convergent strabismus occurred in an higher percentage of the examined patients (19%) than in the normal population (4-5%).

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Year:  1978        PMID: 105123     DOI: 10.3928/0191-3913-19781101-03

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  8 in total

Review 1.  Waardenburg syndrome.

Authors:  A P Read; V E Newton
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  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

3.  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

4.  Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Authors:  Sandy Léger; Xavier Balguerie; Alice Goldenberg; Valérie Drouin-Garraud; Annick Cabot; Isabelle Amstutz-Montadert; Paul Young; Pascal Joly; Virginie Bodereau; Muriel Holder-Espinasse; Robyn V Jamieson; Amanda Krause; Hongsheng Chen; Clarisse Baumann; Luis Nunes; Hélène Dollfus; Michel Goossens; Véronique Pingault
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

5.  Pigment distribution in Waardenburg's syndrome: a new hypothesis.

Authors:  T M Nork; Z M Shihab; R S Young; J Price
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

6.  Waardenburg's memorial lecture: Waardenburg's syndrome.

Authors:  J François
Journal:  Int Ophthalmol       Date:  1982-05       Impact factor: 2.031

7.  Isolated choroidal melanocytosis: clinical update on 37 cases.

Authors:  James J Augsburger; Cassandra C Brooks; Zelia M Correa
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2020-09-09       Impact factor: 3.117

8.  Case report: Exotropia in waardenburg syndrome with novel variations.

Authors:  Lijuan Huang; Maosheng Guo; Ningdong Li
Journal:  Front Genet       Date:  2022-09-02       Impact factor: 4.772

  8 in total

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