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A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

BACKGROUND: Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical pheno...

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Detalles Bibliográficos
Autores principales:	Li, Yuchan, Wang, Jian, Wang, Zhigang, Tang, Jingyan, Yu, Tingting
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681804/ https://www.ncbi.nlm.nih.gov/pubmed/29126381 http://dx.doi.org/10.1186/s12881-017-0488-2

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