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Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
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...
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| Udgivet i: | BMC Med Genomics |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7733265/ https://ncbi.nlm.nih.gov/pubmed/33308208 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00843-5 |
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