两名患有泰尔哈绍梅尔屈曲指和二尖瓣脱垂的兄弟姐妹。
Two siblings with Tel Hashomer camptodactyly and mitral valve prolapse.
作者信息
Toriello H V, Higgins J V, Malvitz T, Waterman D F
机构信息
Blodgett Memorial Medical Center, Butterworth Hospital, Grand Rapids, MI.
出版信息
Am J Med Genet. 1990 Aug;36(4):398-403. doi: 10.1002/ajmg.1320360406.
PMID:2202212
Abstract
A brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve prolapse as a component manifestation of Tel Hashomer camptodactyly suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele.
摘要
本文描述了一对患有泰尔哈绍默屈曲指畸形和二尖瓣脱垂的兄妹。二尖瓣脱垂具有异质性，但在患有结缔组织疾病的个体中似乎更常出现。二尖瓣脱垂作为泰尔哈绍默屈曲指畸形的一种组成表现，表明异常结缔组织是突变等位基因的一种多效性效应。
Zotero 插件