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

• Main Authors: Yuchan Li (Author), Jian Wang (Author), Zhigang Wang (Author), Jingyan Tang (Author), Tingting Yu (Author)
• Formato: Livro
• Publicado em: BMC, 2017-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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 clinic...