Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

Molecular vision - 1 Jan 2013

Hazan Filiz, Ozturk A Taylan, Adibelli Hamit, Unal Nurettin, Tukun Ajlan

Abstract excerpt

PURPOSE: Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). METHODS: WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Eye
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Paired Box Transcription Factors

Share to PAX3 Transcription Factor

Share to Turkey

Share to Waardenburg Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 23378733
PMCID: PMC3559089

Genes

PAX3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.PMID 23378733Read ↗

A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.Semantic proximity Read ↗

Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.Semantic proximity Read ↗

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.Semantic proximity Read ↗

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.Semantic proximity Read ↗

A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1.Semantic proximity Read ↗

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.Semantic proximity Read ↗

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.Semantic proximity Read ↗

A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.Semantic proximity Read ↗

A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).Semantic proximity Read ↗

A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family.Semantic proximity Read ↗

First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.Semantic proximity Read ↗

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation SequencingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.