一个印度家庭中伴有多毛症的泰尔-哈绍梅尔屈曲指综合征。
Tel-Hashomer camptodactyly syndrome with hirsuitism in an Indian family.
作者信息
Patel Zareen M, Adhia Rashmi A
机构信息
Genetic Research Centre, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai 400 012, India.
出版信息
J Assoc Physicians India. 2004 Oct;52:837-8.
PMID:15909866
Abstract
Two new cases with the Tel-Hashomer camptodactyly syndrome have been ascertained in an Indian family. This report emphasizes the autosomal recessive nature of disease and documents an additional feature of hirsuitism not previously described. The gene for Tel-Hashomer camptodactyly syndrome is present in all populations around the world.
摘要
在一个印度家庭中确诊了两例患有特尔-哈肖默尔屈曲指综合征的新病例。本报告强调了该疾病的常染色体隐性性质，并记录了此前未描述过的多毛症这一额外特征。特尔-哈肖默尔屈曲指综合征的基因存在于世界所有人群中。
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