A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder

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A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder

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2016 nî lūn-bûn

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A novel nonsense mutation in t ...... ymphalangism spectrum disorder

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A novel nonsense mutation in t ...... ymphalangism spectrum disorder

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A novel nonsense mutation in t ...... ymphalangism spectrum disorder

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A novel nonsense mutation in t ...... ymphalangism spectrum disorder

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A novel nonsense mutation in t ...... ymphalangism spectrum disorder

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A novel nonsense mutation in t ...... ymphalangism spectrum disorder

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P1476

A novel nonsense mutation in t ...... ymphalangism spectrum disorder

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P2093

Aki Ishikawa

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Akihiro Sakurai

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Hideki Mutai

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Kenichi Takano

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Noriko Ogasawara

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Tatsuo Matsunaga

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Tetsuo Himi

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P2860

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4

Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome

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.

Structural basis of BMP signalling inhibition by the cystine knot protein Noggin

Characterization of a stapes ankylosis family with a NOG mutation

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss

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hgv.2016.23

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16023

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scholarly article

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10.1038/HGV.2016.23

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2016-08-04T00:00:00Z

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1034749932

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27508084

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4972895

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