ArticleAmerican journal of human genetics1994
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 67 citations in OpenAlex.
- Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.Human genetics · 2022Article
- Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Molecular genetics & genomic medicine · 2021Article
- Targeted next-generation sequencing identified a novel variant ofThe Journal of international medical research · 2020Article
- New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.Neural plasticity · 2019Article
- Review
- A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.BMC pediatrics · 2018Article
- Identification of rare paired box 3 variant in strabismus by whole exome sequencing.International journal of ophthalmology · 2017Article
- Clinical and genetic investigation of families with type II Waardenburg syndrome.Molecular medicine reports · 2016Article
- A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.Molecular vision · 2013Article
- PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.Molecular vision · 2010Article
- Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?American journal of medical genetics. Part A · 2008Article
- Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.Journal of medical genetics · 1998Article
- The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).Journal of medical genetics · 1997Review
- Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.American journal of human genetics · 1996Article
- Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.American journal of human genetics · 1996Article
- Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.Journal of medical genetics · 1995Article
- Homozygosity for Waardenburg syndrome.American journal of human genetics · 1995Article
- Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.American journal of human genetics · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3.
Indexed as
Identifiers
7942851PMC1918288W1596733933What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.