Article
Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.
American journal of human genetics - 1 Jun 2009
Sun Miao, Li Ning, Dong Wu, Chen Zugen, Liu Qing, Xu Yiming, He Guang, Shi Yongyong, Li Xin, Hao Jiajie, Luo Yang, Shang Dandan, Lv Dan, Ma Fen, Zhang Dai, Hua Rui, Lu Chaoxia, Wen Yaran, Cao Lihua, Irvine Alan D, McLean W H Irwin, Dong Qi, Wang Ming-Rong, Yu Jun, He Lin, Lo Wilson H Y, Zhang Xue
Abstract excerpt
Congenital generalized hypertrichosis terminalis (CGHT) is a rare condition characterized by universal excessive growth of pigmented terminal hairs and often accompanied with gingival hyperplasia. In the present study, we describe three Han Chinese families with autosomal-dominant CGHT and a sporadic case with extreme CGHT and gingival hyperplasia. We first did a genome-wide linkage scan in a large...
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