Skip to search formSkip to main contentSkip to account menu

Waardenburg Syndrome

Known as: syndrome waardenburg, Syndrome, Waardenburg's, Syndrome, Waardenburg 
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair… 
National Institutes of Health

Related topics

Related topics

26 relations

Narrower (11)

ABCD syndromeVan der Hoeve Halbertsma Waardenburg Gualdi SyndromeWAARDENBURG SYNDROME, TYPE 4AWAARDENBURG SYNDROME, TYPE IIA

Broader (2)

Hereditary DiseasesSyndrome
In BloodKlein's SyndromeMicrobiologicalPAX3 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
1995
1995
Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma.
Highly Cited
1994
Highly Cited
1994
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
The human PAX3 gene contains a paired box and a paired-type homeobox, and is believed to play a role in pattern formation in the… 
Review
1994
Review
1994
Ophthalmologic abnormalities in the pediatric cochlear implant population.
Review
1992
Review
1992
Molecular genetics of the Pax gene family.
1992
1992
Autosomal dominant inheritance of Klein-Waardenburg syndrome.
We report on 2 sibs with the Klein-Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion… 
Highly Cited
1983
Highly Cited
1983
Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).
The story of the Klein-Waardenburg syndrome begins with the presentation before the Swiss Society of Genetics in Geneva in August… 
1979
1979
Hirschsprung's disease and Waardenburg's syndrome.
There are several reports of an association of congenital deafness with Hirschsprung's aganglionic megacolon.1,2 This patient is… 
Review
1977
Review
1977
Heterogeneity in Waardenburg syndrome.
Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously… 
Highly Cited
1964
Highly Cited
1964
WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION.
  • M. Partington
  • Canadian Medical Association journal
  • 1964
  • Corpus ID: 45127013
Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root… 
1959
1959
An English Family with Waardenburg's Syndrome
In 1951 Waardenburg first described a syndrome consisting of (1) lateral displacement of the inner canthi of the eye and of the… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)