伴有父母近亲结婚的严重假性软骨发育不全
Severe pseudoachondroplasia with parental consanguinity.
作者信息
Young I D, Moore J R
出版信息
J Med Genet. 1985 Apr;22(2):150-3. doi: 10.1136/jmg.22.2.150.
Abstract
A boy who showed features of the severe form of pseudoachondroplasia, whose parents were first cousins, is reported. Published reports supporting the existence of an autosomal recessive form of this disorder are reviewed.
摘要
据报道，有一名患有严重型假性软骨发育不全症的男孩，其父母为近亲。本文回顾了支持该疾病存在常染色体隐性遗传形式的已发表报告。
Zotero 插件