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Article

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

European journal of medical genetics - 1 Sept 2015

Ishino Takashi, Takeno Sachio, Hirakawa Katsuhiro

Abstract excerpt

Human noggin (NOG) gene mutation causes multiple bony disorders showing up as stapes ankylosis with broad thumbs and toes (SABTT), proximal symphalangism (SYM1), multiple synostoses syndrome 1 (SYNS1), tarsal-carpal coalition syndrome (TCC) and brachydactyly type B2 (BDB2). These phenotypes are defined as NOG-related syndromes with the same mutation. Some of these syndromes feature stapes ankylosis as one of the...

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Source

Identifiers

PMID: 26211601
DOI: 10.1016/j.ejmg.2015.06.005

Genes

NOG

Variants

Provenance

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Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.PMID 26211601Read ↗

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

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

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

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

Characterization of a stapes ankylosis family with a NOG mutation.Semantic proximity Read ↗

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

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