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...

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Detalles Bibliográficos
Autores principales: Kim, Sungmin, Lee, Chang-Hyun, Choi, Seok-Yong, Kim, Myeong-Kyu, Jung, Sung Taek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267182/
https://www.ncbi.nlm.nih.gov/pubmed/35806987
http://dx.doi.org/10.3390/jcm11133703

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