Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge

• Main Authors: Qi Huang (Author), Cheng Jiang (Author), Jiazhong Sun (Author), Junli Xue (Author), Victor Wei Zhang (Author)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant malformation caused by mutations involving the TRPS1 gene. Patients with TRPS exhibit distinctive craniofacial and skeletal abnormalities. This report presents three intra-familial cases with TRPS1 gene mutations that showed the ch...