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
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
Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder.
Quesnel AM et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.
Rudnik-Schöneborn S et al.
American Journal of Medical Genetics. Part A, 2010
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