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

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.

BMC medical genomics - 11 Dec 2020

Yu Rong, Jiang Hongqun, Liao Huihuang, Luo Wugen

Abstract excerpt

BACKGROUND: The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. METHODS: In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected....

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Auditory Threshold
Share to Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hand Deformities, Congenital

Share to Hearing Loss, Conductive

Share to Recurrence

Share to Sclerosis

Share to Synostosis

Source

Open in PubMed Open full text

Identifiers

PMID: 33308208
DOI: 10.1186/s12920-020-00843-5
PMCID: PMC7733265

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.PMID 33308208Read ↗

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

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 ↗

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

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.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 ↗

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

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

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.Semantic proximity Read ↗

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

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.Semantic proximity Read ↗

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

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