Article
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2013
Lu Chun-Ting, Guo Li, Zahng Zhan-Hui, Lin Wei-Xia, Song Yuan-Zong, Feng Lie
Abstract excerpt
This study aimed to report the clinical characteristics and COMP gene mutation of a family with pseudoachondroplasia (PSACH), a relatively rare spinal and epiphyseal dysplasia that is inherited as an autosomal dominant trait. Clinical information on a 5-year-2-month-old PSACH child and his parents was collected and analyzed. Diagnosis was confirmed by PCR amplification and direct sequencing of all the 19 exons...
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