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 mutation in the MITF gene causes Waardenburg syndrome type 2.

Genetic analysis : biomolecular engineering - 1 Jul 1996

Lautenschlager N T, Milunsky A, DeStefano A, Farrer L, Baldwin C T

Abstract excerpt

Mutations in the MITF gene on human chromosome 3 have been reported in families with Waardenburg Syndrome Type 2 (WS2), an autosomal dominant disorder responsible for a large proportion of congenital hearing loss. We examined 16 families with WS2 for mutations in the MITF gene. In one four-genera...

Read the complete abstract on PubMed

Topics

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

Share to Binding Sites
Share to DNA-Binding Proteins
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Transcription Factors

Share to Waardenburg Syndrome

Source

Identifiers

PMID: 8880147
DOI: 10.1016/1050-3862(95)00148-4

Genes

MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8880147-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the MITF gene causes Waardenburg syndrome type 2.PMID 8880147Read ↗

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.Semantic proximity Read ↗

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.Semantic proximity Read ↗

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.Semantic proximity Read ↗

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Semantic proximity Read ↗

A novel MITF splice site mutation in a family with Waardenburg syndrome.Semantic proximity Read ↗

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.Semantic proximity Read ↗

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.Semantic proximity Read ↗

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.Semantic proximity Read ↗

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.Semantic proximity Read ↗

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.Semantic proximity Read ↗

[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].Semantic proximity Read ↗

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.Semantic proximity Read ↗

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