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

Emberger syndrome: A rare association with hearing loss.

International journal of pediatric otorhinolaryngology - 1 May 2018

Zawawi Faisal, Sokolov Meirav, Mawby Thomas, Gordon Karen A, Papsin Blake C, Cushing Sharon L

Abstract excerpt

Emberger Syndrome (ES) is a rare genetic disorder characterized by lymphedema and myelodysplasia. It is also associated with hearing loss. The genetic mutations associated with ES are not part of the comprehensive 80 gene next generation sequencing (NGS) panel. As a result, the otolaryngologist should maintain an index of suspicion for ES in any child with SNHL who presents repeatedly with recurrent infections,...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to GATA2 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Lymphedema

Share to Myelodysplastic Syndromes

Share to Syndrome

Source

Identifiers

PMID: 29605372
DOI: 10.1016/j.ijporl.2018.02.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Emberger syndrome: A rare association with hearing loss.PMID 29605372Read ↗

A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene.Semantic proximity Read ↗

Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature.Semantic proximity Read ↗

First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation.Semantic proximity Read ↗

Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosed AML: A case report and literature review of invasive fungal infections in GATA2 deficiency.Semantic proximity Read ↗

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.Semantic proximity Read ↗

A novel approach to the classification of epidermodysplasia verruciformisSemantic proximity Read ↗

Hearing loss in Muckle-Wells syndrome.Semantic proximity Read ↗

Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90 years of debate.Semantic proximity Read ↗

Rescue from hearing loss in Usher's syndrome.Semantic proximity Read ↗

EPHB4 mutation causes adult and adolescent-onset primary lymphedema.Semantic proximity Read ↗

Hearing impairment in Usher's syndrome.Semantic proximity Read ↗

De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.Semantic proximity Read ↗

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