Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation

• Egile Nagusiak: Rong Yu (Egilea), Hongqun Jiang (Egilea), Huihuang Liao (Egilea), Wugen Luo (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-12-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...