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

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.

International journal of pediatric otorhinolaryngology - 1 May 2018

Westergaard-Nielsen Marie, Amstrup Tine, Wanscher Jens Højberg, Brusgaard Klaus, Ousager Lilian Bomme

Abstract excerpt

OBJECTIVE: Evaluation of clinical findings and audiological outcome after surgery in a Danish family with autosomal dominant facio-audio-symphalangism syndrome with stapes fixation, syndactyly and symphalangism. METHODS: Retrospective report on eight affected family members in a Danish family. Clinical investigation included X-ray, audiology and in one case video-recorded surgery. Main outcome measure was...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Denmark

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Foot Deformities, Congenital

Share to Hand Deformities, Congenital

Share to Hearing Loss, Conductive

Share to Syndactyly

Share to Synostosis

Source

Identifiers

PMID: 29605356
DOI: 10.1016/j.ijporl.2018.03.008

Genes

NOG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.PMID 29605356Read ↗

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.Semantic proximity Read ↗

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).Semantic proximity Read ↗

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.Semantic proximity Read ↗

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.Semantic proximity Read ↗

Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome.Semantic proximity Read ↗

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.Semantic proximity Read ↗

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by a NOG mutationSemantic proximity Read ↗

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?Semantic proximity Read ↗

Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder.Semantic proximity Read ↗

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.Semantic proximity Read ↗

Multiple synostoses syndrome: Clinical report and retrospective analysis.Semantic proximity Read ↗

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.Semantic proximity Read ↗

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