A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient.
Shanshan BaiYingnan GengHuichuan DuanLiang XuZheyuan YuJie YuanMin WeiPublished in: Orthodontics & craniofacial research (2021)
Our observations expand the molecular spectrum of gene mutations in craniosynostosis and emphasize the importance of gene testing in the diagnosis of craniosynostosis. The observations also reinforce the characteristics of SPECC1L-related cranial disorders.