2020
DOI: 10.21203/rs.3.rs-42135/v3
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Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by a 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, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them.Results: The sequencing anal… Show more

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