A novel <it>COMP </it>mutation in a pseudoachondroplasia family of Chinese origin

• Main Authors: Zhu Jun (Author), Li Nana (Author), Mao Meng (Author), Wang Yanping (Author), Xie Liang (Author), Dai Li (Author), Kim Christopher (Author), Zhang Yawei (Author)
• Format: Book
• Published: BMC, 2011-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Pseudoachondroplasia (PSACH) is caused exclusively by mutations in the gene for cartilage oligomeric matrix protein (<it>COMP</it>). Only a small number of studies have documented the clinical phenotype and genetic basis...