Associated Papers
Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.
Zhang Z et al.
Molecular Genetics & Genomic Medicine, 2022
Multiple synostoses syndrome: Clinical report and retrospective analysis.
Pan Z et al.
American Journal of Medical Genetics. Part A, 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
The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis.
Shu Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2019
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.
Takano K et al.
Human Genome Variation, 2016
A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family.
Pang X et al.
The Annals of Otology, Rhinology, and Laryngology, 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
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss.
Masuda S et al.
Biochemical and Biophysical Research Communications, 2014
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
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
Takahashi T et al.
Clinical Genetics, 2001
[The Point Mutation in NOGGIN2 Protein That Enhances Its Ability to Bind Activin].
Eroshkin FM et al.
Bioorganicheskaia Khimiia, 0