A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

• Main Authors: W. Smaili (Author), S. Chafai Elalaoui (Author), S. Meier (Author), M. Zerkaoui (Author), A. Sefiani (Author), K. Heinimann (Author)
• 格式: 图书
• 出版: BMC, 2017-05-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Abstract Background Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsuf...