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SAT-384 Identification of Heterozygous LRP5 Mutation and a TGFβ-1 Variant of Unknown Significance in a Patient with Hearing Loss, High Bone Mass, and Oropharyngeal Exostoses
Background: Manifestations of the high bone mass (HBM) disorders not only include strong bones, but also excessive bones causing cranial nerve palsies and oropharyngeal exostoses. Due to overlap of clinical phenotype in dense bone diseases, one or more distinct genes may be involved. Up-regulation i...
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| Pubblicato in: | J Endocr Soc |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7208551/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.149 |
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