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Updated: Nov 19, 2025

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A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient

Shanshan Bai1, Yingnan Geng1, Huichuan Duan1

  • 1Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Orthodontics & Craniofacial Research
|February 2, 2021
PubMed
Abstract

Keywords:
SPECC1Lcranial disorderscraniosynostosiswhole exome sequencing

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