S Usami S Abe S Nishio Y Sakurai H Kojima T Tono N Suzuki
10.1111/j.1399-0004.2011.01831.x
Clin Genet
2012 Dec;82(6):514-20.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22288654/
Ankylosis / genetics Carrier Proteins / genetics Genetic Predisposition to Disease / genetics Hyperopia / genetics Joint Diseases / congenital Phenotype Syndactyly / genetics
Ankylosis / genetics Carrier Proteins / genetics Genetic Predisposition to Disease / genetics Hyperopia / genetics Joint Diseases / congenital Phenotype Syndactyly / genetics Case Reports Research Support, Non-U.S. Gov't Adult Aged Ankylosis / pathology Asian People / genetics Carpal Bones / abnormalities DNA Primers / genetics Female Finger Joint / abnormalities Finger Joint / pathology Foot Deformities, Congenital Hand Deformities, Congenital Hearing Loss, Conductive / genetics Hearing Loss, Conductive / pathology Humans Hyperopia / pathology Joint Diseases / genetics Joint Diseases / pathology Male Middle Aged Mutation / genetics Otosclerosis / genetics Pedigree Polymerase Chain Reaction Sequence Analysis, DNA Stapes / abnormalities Stapes / pathology Syndactyly / pathology Synostosis Tarsal Bones / abnormalities Thumb / abnormalities Thumb / pathology Toes / abnormalities Toes / pathology Carrier Proteins DNA Primers noggin protein Cushing's symphalangism NOG-Related-Symphalangism Spectrum Disorder
PMC3532604
22288654
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
2012