Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
Abstract Background The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. Methods In a retrospective study, clinic...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-12-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-020-00843-5 |