ArticleAmerican journal of human genetics1995
Homozygosity for Waardenburg syndrome.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
24 citing papers in PubMed, 99 citations in OpenAlex.
- Association of Waardenburg syndrome with a new mutation in theBiomedical reports · 2025Article
- Association ofInternational journal of molecular sciences · 2025Article
- PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.G3 (Bethesda, Md.) · 2024Article
- Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat.Animals : an open access journal from MDPI · 2024Article
- Review
- Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea.Scientific reports · 2024Article
- Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.Audiology research · 2023Article
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.Journal of medical case reports · 2022Article
- Case Report: A Novel Gross Deletion inFrontiers in genetics · 2021Article
- Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.PloS one · 2021Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- Waardenburg Syndrome Expression and Penetrance.Journal of rare diseases research & treatment · 2017Article
- Identification of rare paired box 3 variant in strabismus by whole exome sequencing.International journal of ophthalmology · 2017Article
- Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?Frontiers in genetics · 2017Article
- Bone development.Bone · 2015Review
- Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.BMJ open · 2013Article
- Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.Human genetics · 2012Article
- Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes.Molecular syndromology · 2011Article
- Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.Pigment cell & melanoma research · 2008Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a large kindred including many individuals affected with Waardenburg (WS) type 1 (WS1) syndrome, a child affected with a very severe form of WS type 3 was born. This child presented with dystopia canthorum, partial albinism, and very severe upper-limb defects. His parents were first cousins, both affected with a mild form of WS1. Molecular analysis of PAX3, the gene that was determined by linkage to cause the disorder in the family, demonstrated a novel missense mutation (S84F) in exon 2 of PAX3 within the paired box. While individuals affected with WS1 were heterozygous for the mutation, the child with WS3 was homozygous for S84F. The observation that the PAX3 homozygote in humans may allow life at least in early infancy and does not cause neural tube defects was unexpected, since, in all the mutations known in mice (splotch), homozygosity has led to severe neural tube defects and intrauterine or neonatal death.
Indexed as
Identifiers
7726174PMC1801439W135824410What 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.