Progressive symmetric erythrokeratodermia: report of a Chinese family and evidence for genetic heterogeneity
โ Scribed by Cui, Yong; Yang, Sen; He, Ping-Ping; Zhou, Wen-Ming; Li, Ming; Gao, Min; Chen, Jian-Jun; Yan, Kai-Lin; Xiao, Feng-Li; Xu, Shi-Jie; Huang, Wei; Zhang, Xue-Jun
- Book ID
- 119292950
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 242 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0923-1811
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrom
Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 1 l p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five indivi
To understand the molecular basis of familial hypertrophic cardiomyopathy (FHC) in the Chinese population, a family with FHC was investigated. Nineteen family members who were 16 years of age or older were examined by M-mode or two-dimensional echocardiography. Eight members were diagnosed to be aff