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A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients
Multiple hereditary exostoses (MHE) is a rare autosomal dominant skeletal disorder with a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of MHE using our own scoring system and analyzed the risk factors associated with severe clinical phenotypes. In...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267182/ https://www.ncbi.nlm.nih.gov/pubmed/35806987 http://dx.doi.org/10.3390/jcm11133703 |