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
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
GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K et al.
American Journal of Human Genetics, 2006
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