Associated Papers
Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.
Sonoyama T et al.
Human Genome Variation, 2023
Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.
Yu R et al.
Bmc Medical Genomics, 2020
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.
Yuan ZZ et al.
Bioscience Reports, 2020
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
Ma C et al.
Bmc Medical Genetics, 2019
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.
Takano K et al.
Human Genome Variation, 2016
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.
Ishino T et al.
European Journal of Medical Genetics, 2015
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.
Usami S et al.
Clinical Genetics, 2012
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).
Potti TA et al.
Human Mutation, 2011
Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.
Thomeer HG et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2011
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.
Brown DJ et al.
American Journal of Human Genetics, 2002
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
Takahashi T et al.
Clinical Genetics, 2001
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