Literature DB >> 15640106

[Report of a rare distal arthrogrophy large family].

Miao Jiang1, Wei-Tian Han, Chao-Ying Bian, Ge Wang, Wei-Zhou Li, Li-Na Sun, Ze Yang.   

Abstract

We describe a seven-generation large family with talipomanus and talipes, 175 individuals in this family were involved. 32 affected individuals including 18 males and 14 females whose clinical features were different and 1 suspicious male were found. The talipomanus were symmetrical, and varus and valgus were caused by vertical talus. We investigated their living environment, the dietary habit, obstetrical history, physical status, lifespan, and studied cytogenetics and so on. We propose these defects were rare distal arthrogrophy genetic disease.

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Year:  2004        PMID: 15640106

Source DB:  PubMed          Journal:  Yi Chuan        ISSN: 0253-9772


  1 in total

1.  A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

Authors:  Miao Jiang; Xiuli Zhao; Weitian Han; Chaoying Bian; Xuefu Li; Ge Wang; Yang Ao; Yunqing Li; Dongxu Yi; Yang Zhe; Wilson H Y Lo; Xue Zhang; Jianxin Li
Journal:  Hum Genet       Date:  2006-06-27       Impact factor: 4.132

  1 in total

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